(used for mutation description)
(last modified January 3, 2012)
This file was created to facilitate the description of sequence variants in the DYSF gene based on a coding DNA reference sequence. To strictly follow the HGVS recommendations the coding DNA reference sequence should include all exons that still give a transcript with an open reading frame. However, originally variants in the DYSF gene have been described using transcript variant 8 (NM_003494.3) as a reference not including alternatively spliced exon 6 (5b) and exon 42 (40b). To allow users to trace back original reports, we have decided to show variants in the database in relation to both reference sequences, NM_003494.3 and as HGVS recommended.
The reference sequence shown below includes
all exons, i.e. is HGVS recommended (NOTE:
this transcript variant sequence is not available from the NCBI).
Intron 1 contains an alternative promoter/first exon (exon
1b) encoding a unique 30 amino acid
N-terminal sequence. Exon 17 and 49/50 are also alternatively spliced. Pramono
et al (2009) measured transcript levels of all these forms largely differing
in relative frequencies between skeletal muscle and blood.
NOTE: the database was updated December 11, 2011 to give
descriptions in relation to both NM_003494.3
and HGVS recommended (the sequence below).
(upstream sequence)
. g.5016
gcggccgccgcccagc c.-361
. . . . . . g.5076
caggtgcaaaatgccgtgtcattgggagactccgcagccggagcattagattacagctcg c.-301
. . . . . . g.5136
acggagctcgggaagggcggcgggggtggaagatgagcagaagcccctgttctcggaacg c.-241
. . . . . . g.5196
ccggctgacaagcggggtgagcgcagccggggcggggacccagcctagcccactggagca c.-181
. . . . . . g.5256
gccgggggtggcccgttcccctttaagagcaactgctctaagccaggagccagagattcg c.-121
. . . . . . g.5316
agccggcctcgcccagccagccctctccagcgaggggacccacaagcggcgcctcggccc c.-61
. . . . . . g.5376
tcccgacctttccgagccctctttgcgccctgggcgcacggggccctacacgcgccaagc c.-1
. . . . . . g.5436
ATGCTGAGGGTCTTCATCCTCTATGCCGAGAACGTCCACACACCCGACACCGACATCAGC c.60
M L R V F I L Y A E N V H T P D T D I S p.20
. . | 02 . . . g.32292
GATGCCTACTGCTCCGCGGTGTTTGCAG | GGGTGAAGAAGAGAACCAAAGTCATCAAGAAC c.120
D A Y C S A V F A G | V K K R T K V I K N p.40
^ alternative promoter/exon 01b
. . | 03 . . . . g.33292
AGCGTGAACCCTGTATGGAATGAG | GGATTTGAATGGGACCTCAAGGGCATCCCCCTGGAC c.180
S V N P V W N E | G F E W D L K G I P L D p.60
. . . . . | 04 . g.54595
CAGGGCTCTGAGCTTCATGTGGTGGTCAAAGACCATGAGACGATGGGGAGGAACAG | GTTC c.240
Q G S E L H V V V K D H E T M G R N R | F p.80
. . . . . . g.54655
CTGGGGGAAGCCAAGGTCCCACTCCGAGAGGTCCTCGCCACCCCTAGTCTGTCCGCCAGC c.300
L G E A K V P L R E V L A T P S L S A S p.100
. . . . | 05 . . g.63202
TTCAATGCCCCCCTGCTGGACACCAAGAAGCAGCCCACAGGG | GCCTCGCTGGTCCTGCAG c.360
F N A P L L D T K K Q P T G | A S L V L Q p.120
. . . . . . g.63262
GTGTCCTACACACCGCTGCCTGGAGCTGTGCCCCTGTTCCCGCCCCCTACTCCTCTGGAG c.420
V S Y T P L P G A V P L F P P P T P L E p.140
. . . / 06. (05b) . . g.64640
CCCTCCCCGACTCTGCCTGACCTGGATGTAGTGGCAG / GCGGGGGACAGAGCCGGGCCGAG c.480
P S P T L P D L D V V A G / G G Q S R A E p.160
^ alternatively spliced exon
. . . . . . g.64700
ACTTGGTCCCTGCTCAGTGACAGCACCATGGACACGAGATACTCTGGAAAGAAGTGGCCG c.540
T W S L L S D S T M D T R Y S G K K W P p.180
. / 07 . . . . . g.65143
GCCCCCACGG / ACACAGGAGGAGAGGAAGACACAGAGGACCAGGGACTCACTGGAGATGAG c.600
A P T D / T G G E E D T E D Q G L T G D E p.200
. . . . . . g.65203
GCGGAGCCATTCCTGGATCAAAGCGGAGGCCCGGGGGCTCCCACCACCCCAAGGAAACTA c.660
A E P F L D Q S G G P G A P T T P R K L p.220
. . . . . . g.65263
CCTTCACGTCCTCCGCCCCACTACCCCGGGATCAAAAGAAAGCGAAGTGCGCCTACATCT c.720
P S R P P P H Y P G I K R K R S A P T S p.240
. . . | 08 . . . g.67024
AGAAAGCTGCTGTCAGACAAACCGCAGGATTTCCAG | ATCAGGGTCCAGGTGATCGAGGGG c.780
R K L L S D K P Q D F Q | I R V Q V I E G p.260
. . . . . . g.67084
CGCCAGCTGCCGGGGGTGAACATCAAGCCTGTGGTCAAGGTTACCGCTGCAGGGCAGACC c.840
R Q L P G V N I K P V V K V T A A G Q T p.280
. . . . | 09 . . g.67572
AAGCGGACGCGGATCCACAAGGGAAACAGCCCACTCTTCAATGAG | ACTCTTTTCTTCAAC c.900
K R T R I H K G N S P L F N E | T L F F N p.300
. . . . | 10 . g.68378
TTGTTTGACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACG | GTGGTAGACTCT c.960
L F D S P G E L F D E P I F I T | V V D S p.320
. . . | 11 . . g.71576
CGTTCTCTCAGGACAGATGCTCTCCTCGGGGAGTTCCGG | ATGGACGTGGGCACCATTTAC c.1020
R S L R T D A L L G E F R | M D V G T I Y p.340
. | 12 . . . . . g.72216
AGAGAGCCCC | GGCACGCCTATCTCAGGAAGTGGCTGCTGCTCTCAGACCCTGATGACTTC c.1080
R E P R | H A Y L R K W L L L S D P D D F p.360
. . . . . . g.72276
TCTGCTGGGGCCAGAGGCTACCTGAAAACAAGCCTTTGTGTGCTGGGGCCTGGGGACGAA c.1140
S A G A R G Y L K T S L C V L G P G D E p.380
| 13 . . . . . . g.77651
GCGCCT | CTGGAGAGAAAAGACCCCTCTGAAGACAAGGAGGACATTGAAAGCAACCTGCTC c.1200
A P | L E R K D P S E D K E D I E S N L L p.400
. . . . . . g.77711
CGGCCCACAGGCGTAGCCCTGCGAGGAGCCCACTTCTGCCTGAAGGTCTTCCGGGCCGAG c.1260
R P T G V A L R G A H F C L K V F R A E p.420
. | 14 . . . . . g.79722
GACTTGCCGCAGA | TGGACGATGCCGTGATGGACAACGTGAAACAGATCTTTGGCTTCGAG c.1320
D L P Q M | D D A V M D N V K Q I F G F E p.440
. . . . . | 15. g.86401
AGTAACAAGAAGAACTTGGTGGACCCCTTTGTGGAGGTCAGCTTTGCGGGGAAAATG | CTG c.1380
S N K K N L V D P F V E V S F A G K M | L p.460
. . . . . . g.86461
TGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCT c.1440
C S K I L E K T A N P Q W N Q N I T L P p.480
| 16 . . . . . | 17 . g.90544
GCCATG | TTTCCCTCCATGTGCGAAAAAATGAGGATTCGTATCATAGACTG | GGACCGCCTG c.1500
A M | F P S M C E K M R I R I I D W | D R L p.500
. . . . . . g.90604
ACTCACAATGACATCGTGGCTACCACCTACCTGAGTATGTCGAAAATCTCTGCCCCTGGA c.1560
T H N D I V A T T Y L S M S K I S A P G p.520
. | 18 . . . . | 19 . g.102423
GGAGAAATAGAAG | AGGAGCCTGCAGGTGCTGTCAAGCCTTCGAAAGCCTCAGACT | TGGAT c.1620
G E I E E | E P A G A V K P S K A S D L | D p.540
. . . . . . g.102483
GACTACCTGGGCTTCCTCCCCACTTTTGGGCCCTGCTACATCAACCTCTATGGCAGTCCC c.1680
D Y L G F L P T F G P C Y I N L Y G S P p.560
. . . . . | 20 . g.102993
AGAGAGTTCACAGGCTTCCCAGACCCCTACACAGAGCTCAACACAGGCAAG | GGGGAAGGT c.1740
R E F T G F P D P Y T E L N T G K | G E G p.580
. . . . . . g.103053
GTGGCTTATCGTGGCCGGCTTCTGCTCTCCCTGGAGACCAAGCTGGTGGAGCACAGTGAA c.1800
V A Y R G R L L L S L E T K L V E H S E p.600
. . . . | 21 . . g.104403
CAGAAGGTGGAGGACCTTCCTGCGGATGACATCCTCCGGGTGGAG | AAGTACCTTAGGAGG c.1860
Q K V E D L P A D D I L R V E | K Y L R R p.620
. . . . . . g.104463
CGCAAGTACTCCCTGTTTGCGGCCTTCTACTCAGCCACCATGCTGCAGGATGTGGATGAT c.1920
R K Y S L F A A F Y S A T M L Q D V D D p.640
. . . . . . g.104523
GCCATCCAGTTTGAGGTCAGCATCGGGAACTACGGGAACAAGTTCGACATGACCTGCCTG c.1980
A I Q F E V S I G N Y G N K F D M T C L p.660
. . . . | 22 . . g.105201
CCGCTGGCCTCCACCACTCAGTACAGCCGTGCAGTCTTTGACG | GGTGCCACTACTACTAC c.2040
P L A S T T Q Y S R A V F D G | C H Y Y Y p.680
. . . . . . g.105261
CTACCCTGGGGTAACGTGAAACCTGTGGTGGTGCTGTCATCCTACTGGGAGGACATCAGC c.2100
L P W G N V K P V V V L S S Y W E D I S p.700
. . . . | 23 . g.107354
CATAGAATCGAGACTCAGAACCAGCTGCTTGGGATTGCTGACCGGCTG | GAAGCTGGCCTG c.2160
H R I E T Q N Q L L G I A D R L | E A G L p.720
. . . . . . g.107414
GAGCAGGTCCACCTGGCCCTGAAGGCGCAGTGCTCCACGGAGGACGTGGACTCGCTGGTG c.2220
E Q V H L A L K A Q C S T E D V D S L V p.740
. . . | 24 . . . g.113154
GCTCAGCTGACGGATGAGCTCATCGCAGGCTGCAG | CCAGCCTCTGGGTGACATCCATGAG c.2280
A Q L T D E L I A G C S | Q P L G D I H E p.760
. . . . . . g.113214
ACACCCTCTGCCACCCACCTGGACCAGTACCTGTACCAGCTGCGCACCCATCACCTGAGC c.2340
T P S A T H L D Q Y L Y Q L R T H H L S p.780
. . . . . . g.113274
CAAATCACTGAGGCTGCCCTGGCCCTGAAGCTCGGCCACAGTGAGCTCCCTGCAGCTCTG c.2400
Q I T E A A L A L K L G H S E L P A A L p.800
. . . . | 25 . g.115447
GAGCAGGCGGAGGACTGGCTCCTGCGTCTGCGTGCCCTGGCAGAGGAG | CCCCAGAACAGC c.2460
E Q A E D W L L R L R A L A E E | P Q N S p.820
. . . . . . g.115507
CTGCCGGACATCGTCATCTGGATGCTGCAGGGAGACAAGCGTGTGGCATACCAGCGGGTG c.2520
L P D I V I W M L Q G D K R V A Y Q R V p.840
. . . . . . g.115567
CCCGCCCACCAAGTCCTCTTCTCCCGGCGGGGTGCCAACTACTGTGGCAAGAATTGTGGG c.2580
P A H Q V L F S R R G A N Y C G K N C G p.860
. . | 26 . . . . g.119364
AAGCTACAGACAATCTTTCTGAAA | TATCCGATGGAGAAGGTGCCTGGCGCCCGGATGCCA c.2640
K L Q T I F L K | Y P M E K V P G A R M P p.880
. . . . . . g.119424
GTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCAG c.2700
V Q I R V K L W F G L S V D E K E F N Q p.900
. . . | 27 . . . g.119573
TTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACC | TATGAGAACGAGACTAAGTTGGCC c.2760
F A E G K L S V F A E T | Y E N E T K L A p.920
. . . . . . g.119633
CTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGC c.2820
L V G N W G T T G L T Y P K F S D V T G p.940
. . . . . . g.119693
AAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGAT c.2880
K I K L P K D S F R P S A G W T W A G D p.960
. . | 28 . . . . g.121234
TGGTTCGTGTGTCCGGAGAAGAC | TCTGCTCCATGACATGGACGCCGGTCACCTGAGCTTC c.2940
W F V C P E K T | L L H D M D A G H L S F p.980
. . . . . . g.121294
GTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGCCAGTGGATCTACATGAGT c.3000
V E E V F E N Q T R L P G G Q W I Y M S p.1000
. | 29 . . . . g.121648
GACAACTACACCGATGTG | AACGGGGAGAAGGTGCTTCCCAAGGATGACATTGAGTGCCCA c.3060
D N Y T D V | N G E K V L P K D D I E C P p.1020
. . . . . . g.121708
CTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGAG c.3120
L G W K W E D E E W S T D L N R A V D E p.1040
| 30 . . . . . . g.122032
CAAG | GCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCT c.3180
Q G | W E Y S I T I P P E R K P K H W V P p.1060
. . . . . . g.122092
GCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGAT c.3240
A E K M Y Y T H R R R R W V R L R R R D p.1080
. . | 31. . . . g.125608
CTCAGCCAAATGGAAGCACTGAAAAGG | CACAGGCAGGCGGAGGCGGAGGGCGAGGGCTGG c.3300
L S Q M E A L K R | H R Q A E A E G E G W p.1100
. . . . . . g.125668
GAGTACGCCTCTCTTTTTGGCTGGAAGTTCCACCTCGAGTACCGCAAGACAGATGCCTTC c.3360
E Y A S L F G W K F H L E Y R K T D A F p.1120
. . . . . . g.125728
CGCCGCCGCCGCTGGCGCCGTCGCATGGAGCCACTGGAGAAGACGGGGCCTGCAGCTGTG c.3420
R R R R W R R R M E P L E K T G P A A V p.1140
. . | 32 . . . . g.141009
TTTGCCCTTGAGGGGGCCCTG | GGCGGCGTGATGGATGACAAGAGTGAAGATTCCATGTCC c.3480
F A L E G A L | G G V M D D K S E D S M S p.1160
. . . . . | 33 . g.141593
GTCTCCACCTTGAGCTTCGGTGTGAACAGACCCACGATTTCCTGCATATTCGACT | ATGGG c.3540
V S T L S F G V N R P T I S C I F D Y | G p.1180
. . . . . . g.141653
AACCGCTACCATCTACGCTGCTACATGTACCAGGCCCGGGACCTGGCTGCGATGGACAAG c.3600
N R Y H L R C Y M Y Q A R D L A A M D K p.1200
. | 34 . . . . . g.149988
GACTCTTTTTCTG | ATCCCTATGCCATCGTCTCCTTCCTGCACCAGAGCCAGAAGACGGTG c.3660
D S F S D | P Y A I V S F L H Q S Q K T V p.1220
. . . . . . g.150048
GTGGTGAAGAACACCCTTAACCCCACCTGGGACCAGACGCTCATCTTCTACGAGATCGAG c.3720
V V K N T L N P T W D Q T L I F Y E I E p.1240
. . . . . . g.150108
ATCTTTGGCGAGCCGGCCACAGTTGCTGAGCAACCGCCCAGCATTGTGGTGGAGCTGTAC c.3780
I F G E P A T V A E Q P P S I V V E L Y p.1260
. | 35 . . . . . g.152124
GACCATGACACTTAT | GGTGCAGACGAGTTTATGGGTCGCTGCATCTGTCAACCGAGTCTG c.3840
D H D T Y | G A D E F M G R C I C Q P S L p.1280
. . . . . . g.152184
GAACGGATGCCACGGCTGGCCTGGTTCCCACTGACGAGGGGCAGCCAGCCGTCGGGGGAG c.3900
E R M P R L A W F P L T R G S Q P S G E p.1300
. . . | 36 . . . g.152900
CTGCTGGCCTCTTTTGAGCTCATCCAGAGAGAGAAG | CCGGCCATCCACCATATTCCTGGT c.3960
L L A S F E L I Q R E K | P A I H H I P G p.1320
| 37 . . . | 38 . . . g.162646
TTTGAG | GTGCAGGAGACATCAAGGATCCTGGATGAG | TCTGAGGACACAGACCTGCCCTAC c.4020
F E | V Q E T S R I L D E | S E D T D L P Y p.1340
. . . . . . g.162706
CCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTC c.4080
P P P Q R E A N I Y M V P Q N I K P A L p.1360
. | 39 . . . . g.162884
CAGCGTACCGCCATCGAG | ATCCTGGCATGGGGCCTGCGGAACATGAAGAGTTACCAGCTG c.4140
Q R T A I E | I L A W G L R N M K S Y Q L p.1380
. . . . . . g.162944
GCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGCCAGACGGTGCAGTCCTGT c.4200
A N I S S P S L V V E C G G Q T V Q S C p.1400
. . . . . . g.163004
GTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGCACCCTCTTCATGGAAGTG c.4260
V I R N L R K N P N F D I C T L F M E V p.1420
| 40 . . . . . . g.164078
| ATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCATCGATAACCGC c.4320
| M L P R E E L Y C P P I T V K V I D N R p.1440
. . . . . . g.164138
CAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCTG c.4380
Q F G R R P V V G Q C T I R S L E S F L p.1460
. . . . | 41 . . g.164725
TGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAG | ACGATGTGAGCCTA c.4440
C D P Y S A E S P S P Q G G P D | D V S L p.1480
. . . . . . g.164785
CTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATC c.4500
L S P G E D V L I D I D D K E P L I P I p.1500
/ 42 (40b) . . . . . g.171981
CAG / CTTGCAGACGGTCTGTCGAGCTTGGCCCCCACTAACACGGCTTCTCCTCCATCCAGT c.4560
Q / L A D G L S S L A P T N T A S P P S S p.1520
^ alternatively spliced exon
/ 43 . . . . . . g.195396
CCTCAT / GAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTTGCCTCCATAGGGGAGAGG c.4620
P H / E E E F I D W W S K F F A S I G E R p.1540
. . . . | 44 . . g.207554
GAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTGAAG | GTCTATGACACACAG c.4680
E K C G S Y L E K D F D T L K | V Y D T Q p.1560
. . . . . . g.207614
CTGGAGAATGTGGAGGCCTTTGAGGGCCTGTCTGACTTTTGTAACACCTTCAAGCTGTAC c.4740
L E N V E A F E G L S D F C N T F K L Y p.1580
. . . . . | 45 . g.210261
CGGGGCAAGACGCAGGAGGAGACAGAAGATCCATCTGTGATTGGTGAATTTAAG | GGCCTC c.4800
R G K T Q E E T E D P S V I G E F K | G L p.1600
. . . . . . g.210321
TTCAAAATTTATCCCCTCCCAGAAGACCCAGCCATCCCCATGCCCCCAAGACAGTTCCAC c.4860
F K I Y P L P E D P A I P M P P R Q F H p.1620
. . . . . . g.210381
CAGCTGGCCGCCCAGGGACCCCAGGAGTGCTTGGTCCGTATCTACATTGTCCGAGCATTT c.4920
Q L A A Q G P Q E C L V R I Y I V R A F p.1640
. . . | 46 . . . g.211967
GGCCTGCAGCCCAAGGACCCCAATGGAAAG | TGTGATCCTTACATCAAGATCTCCATAGGG c.4980
G L Q P K D P N G K | C D P Y I K I S I G p.1660
. . . . . . g.212027
AAGAAATCAGTGAGTGACCAGGATAACTACATCCCCTGCACGCTGGAGCCCGTATTTGGA c.5040
K K S V S D Q D N Y I P C T L E P V F G p.1680
| 47 . . . . . . g.215703
AA | GATGTTCGAGCTGACCTGCACTCTGCCTCTGGAGAAGGACCTAAAGATCACTCTCTAT c.5100
K | M F E L T C T L P L E K D L K I T L Y p.1700
. . . . . . g.215763
GACTATGACCTCCTCTCCAAGGACGAAAAGATCGGTGAGACGGTCGTCGACCTGGAGAAC c.5160
D Y D L L S K D E K I G E T V V D L E N p.1720
. . . . . | 48 . g.216546
AGGCTGCTGTCCAAGTTTGGGGCTCGCTGTGGACTCCCACAGACCTACTGTGT | CTCTGGA c.5220
R L L S K F G A R C G L P Q T Y C V | S G p.1740
. . . . . . g.216606
CCGAACCAGTGGCGGGACCAGCTCCGCCCCTCCCAGCTCCTCCACCTCTTCTGCCAGCAG c.5280
P N Q W R D Q L R P S Q L L H L F C Q Q p.1760
. . . . . . g.216666
CATAGAGTCAAGGCACCTGTGTACCGGACAGACCGTGTAATGTTTCAGGATAAAGAATAT c.5340
H R V K A P V Y R T D R V M F Q D K E Y p.1780
. | 49 . . . . . g.218797
TCCATTGAAGAGATAG | AGGCTGGCAGGATCCCAAACCCACACCTGGGCCCAGTGGAGGAG c.5400
S I E E I E | A G R I P N P H L G P V E E p.1800
. . . . . . g.218857
CGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTGGTCCCGGAGCACGTGGAGTCACGG c.5460
R L A L H V L Q Q Q G L V P E H V E S R p.1820
. . . | 50 . . . g.220155
CCCCTCTACAGCCCCCTGCAGCCAGACATCGAGCAG | GGGAAGCTGCAGATGTGGGTCGAC c.5520
P L Y S P L Q P D I E Q | G K L Q M W V D p.1840
. . . . . . g.220215
CTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCC c.5580
L F P K A L G R P G P P F N I T P R R A p.1860
| 51 . . . . . . g.220544
AGAAG | GTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTG c.5640
R R | F F L R C I I W N T R D V I L D D L p.1880
. . . . | 52 . . g.221001
AGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGG | TTGGATGATTGGCTTTGAA c.5700
S L T G E K M S D I Y V K G | W M I G F E p.1900
. . . . . . g.221061
GAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAAC c.5760
E H K Q K T D V H Y R S L G G E G N F N p.1920
. . . . . . g.221121
TGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAG c.5820
W R F I F P F D Y L P A E Q V C T I A K p.1940
| 53 . . . . . . g.225631
AAG | GATGCCTTCTGGAGGCTGGACAAGACTGAGAGCAAAATCCCAGCACGAGTGGTGTTC c.5880
K | D A F W R L D K T E S K I P A R V V F p.1960
. . . . | 54 . . g.230451
CAGATCTGGGACAATGACAAGTTCTCCTTTGATGATTTTCTGG | GCTCCCTGCAGCTCGAT c.5940
Q I W D N D K F S F D D F L G | S L Q L D p.1980
. . . . . . g.230511
CTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGAT c.6000
L N R M P K P A K T A K K C S L D Q L D p.2000
. . . . . . g.230571
GATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGG c.6060
D A F H P E W F V S L F E Q K T V K G W p.2020
. . . . | 55 . . g.232396
TGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCG | GGCAAGCTGGAAATGACC c.6120
W P C V A E E G E K K I L A | G K L E M T p.2040
. . . . . . g.232456
TTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAG c.6180
L E I V A E S E H E E R P A G Q G R D E p.2060
. . . | 56 . . . g.233935
CCCAACATGAACCCTAAGCTTGAGGACCCAAG | GCGCCCCGACACCTCCTTCCTGTGGTTT c.6240
P N M N P K L E D P R | R P D T S F L W F p.2080
. . . . . . g.233995
ACCTCCCCATACAAGACCATGAAGTTCATCCTGTGGCGGCGTTTCCGGTGGGCCATCATC c.6300
T S P Y K T M K F I L W R R F R W A I I p.2100
. . . . . . g.234055
CTCTTCATCATCCTCTTCATCCTGCTGCTGTTCCTGGCCATCTTCATCTACGCCTTCCCG c.6360
L F I I L F I L L L F L A I F I Y A F P p.2120
| 57 . . . g.237891
| AACTATGCTGCCATGAAGCTGGTGAAGCCCTTCAGCTGA c.6399
| N Y A A M K L V K P F S X p.2132
. . . . . . g.237951
ggactctcctgccctgtagaaggggccgtggggtcccctccagcatgggactggcctgcc c.*60
. . . . . . g.238011
tcctccgcccagctcggcgagctcctccagacctcctaggcctgattgtcctgccagggt c.*120
. . . . . . g.238071
gggcagacagacagatggaccggcccacactcccagagttgctaacatggagctctgaga c.*180
. . . . . . g.238131
tcaccccacttccatcatttccttctcccccaacccaacgcttttttggatcagctcaga c.*240
. . . g.238162
catatttcagtataaaacagttggaaccaca c.*271
(downstream sequence)
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