(used for mutation description)
(last modified December 11, 2011)
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. This transcript does not include alternatively spliced exons 5b and 40b that were discovered later. 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. For the latter, NCBI does not yet contain a reference sequence so we have created one for these pages (see HGVS recommended).
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.
(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 ^ alternatively promoter/first 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. . . g.65116 CCCTCCCCGACTCTGCCTGACCTGGATGTAGTGGCAG | ACACAGGAGGAGAGGAAGACACA c.480 P S P T L P D L D V V A D | T G G E E D T p.160 ^ alternatively spliced exon 05b . . . . . . g.65176 GAGGACCAGGGACTCACTGGAGATGAGGCGGAGCCATTCCTGGATCAAAGCGGAGGCCCG c.540 E D Q G L T G D E A E P F L D Q S G G P p.180 . . . . . . g.65236 GGGGCTCCCACCACCCCAAGGAAACTACCTTCACGTCCTCCGCCCCACTACCCCGGGATC c.600 G A P T T P R K L P S R P P P H Y P G I p.200 . . . . . . g.65296 AAAAGAAAGCGAAGTGCGCCTACATCTAGAAAGCTGCTGTCAGACAAACCGCAGGATTTC c.660 K R K R S A P T S R K L L S D K P Q D F p.220 | 07 . . . . . . g.67057 CAG | ATCAGGGTCCAGGTGATCGAGGGGCGCCAGCTGCCGGGGGTGAACATCAAGCCTGTG c.720 Q | I R V Q V I E G R Q L P G V N I K P V p.240 . . . . . . g.67117 GTCAAGGTTACCGCTGCAGGGCAGACCAAGCGGACGCGGATCCACAAGGGAAACAGCCCA c.780 V K V T A A G Q T K R T R I H K G N S P p.260 . | 08 . . . . . g.67605 CTCTTCAATGAG | ACTCTTTTCTTCAACTTGTTTGACTCTCCTGGGGAGCTGTTTGATGAG c.840 L F N E | T L F F N L F D S P G E L F D E p.280 . | 09 . . . . . g.68411 CCCATCTTTATCACG | GTGGTAGACTCTCGTTCTCTCAGGACAGATGCTCTCCTCGGGGAG c.900 P I F I T | V V D S R S L R T D A L L G E p.300 | 10 . . . | 11. . . g.72189 TTCCGG | ATGGACGTGGGCACCATTTACAGAGAGCCCC | GGCACGCCTATCTCAGGAAGTGG c.960 F R | M D V G T I Y R E P R | H A Y L R K W p.320 . . . . . . g.72249 CTGCTGCTCTCAGACCCTGATGACTTCTCTGCTGGGGCCAGAGGCTACCTGAAAACAAGC c.1020 L L L S D P D D F S A G A R G Y L K T S p.340 . . . | 12 . . . g.77624 CTTTGTGTGCTGGGGCCTGGGGACGAAGCGCCT | CTGGAGAGAAAAGACCCCTCTGAAGAC c.1080 L C V L G P G D E A P | L E R K D P S E D p.360 . . . . . . g.77684 AAGGAGGACATTGAAAGCAACCTGCTCCGGCCCACAGGCGTAGCCCTGCGAGGAGCCCAC c.1140 K E D I E S N L L R P T G V A L R G A H p.380 . . . . | 13 . . g.79695 TTCTGCCTGAAGGTCTTCCGGGCCGAGGACTTGCCGCAGA | TGGACGATGCCGTGATGGAC c.1200 F C L K V F R A E D L P Q M | D D A V M D p.400 . . . . . . g.79755 AACGTGAAACAGATCTTTGGCTTCGAGAGTAACAAGAAGAACTTGGTGGACCCCTTTGTG c.1260 N V K Q I F G F E S N K K N L V D P F V p.420 . . | 14 . . . . g.86434 GAGGTCAGCTTTGCGGGGAAAATG | CTGTGCAGCAAGATCTTGGAGAAGACGGCCAACCCT c.1320 E V S F A G K M | L C S K I L E K T A N P p.440 . . . | 15 . . . g.86672 CAGTGGAACCAGAACATCACACTGCCTGCCATG | TTTCCCTCCATGTGCGAAAAAATGAGG c.1380 Q W N Q N I T L P A M | F P S M C E K M R p.460 . | 16. . . . . g.90577 ATTCGTATCATAGACTG | GGACCGCCTGACTCACAATGACATCGTGGCTACCACCTACCTG c.1440 I R I I D W | D R L T H N D I V A T T Y L p.480 . . . . | 17 . . g.100747 AGTATGTCGAAAATCTCTGCCCCTGGAGGAGAAATAGAAG | AGGAGCCTGCAGGTGCTGTC c.1500 S M S K I S A P G G E I E E | E P A G A V p.500 . . | 18 . . . . g.102456 AAGCCTTCGAAAGCCTCAGACT | TGGATGACTACCTGGGCTTCCTCCCCACTTTTGGGCCC c.1560 K P S K A S D L | D D Y L G F L P T F G P p.520 . . . . . . g.102516 TGCTACATCAACCTCTATGGCAGTCCCAGAGAGTTCACAGGCTTCCCAGACCCCTACACA c.1620 C Y I N L Y G S P R E F T G F P D P Y T p.540 . | 19 . . . . g.103026 GAGCTCAACACAGGCAAG | GGGGAAGGTGTGGCTTATCGTGGCCGGCTTCTGCTCTCCCTG c.1680 E L N T G K | G E G V A Y R G R L L L S L p.560 . . . . . . g.103086 GAGACCAAGCTGGTGGAGCACAGTGAACAGAAGGTGGAGGACCTTCCTGCGGATGACATC c.1740 E T K L V E H S E Q K V E D L P A D D I p.580 . | 20 . . . . . g.104436 CTCCGGGTGGAG | AAGTACCTTAGGAGGCGCAAGTACTCCCTGTTTGCGGCCTTCTACTCA c.1800 L R V E | K Y L R R R K Y S L F A A F Y S p.600 . . . . . . g.104496 GCCACCATGCTGCAGGATGTGGATGATGCCATCCAGTTTGAGGTCAGCATCGGGAACTAC c.1860 A T M L Q D V D D A I Q F E V S I G N Y p.620 . . . . . . g.104556 GGGAACAAGTTCGACATGACCTGCCTGCCGCTGGCCTCCACCACTCAGTACAGCCGTGCA c.1920 G N K F D M T C L P L A S T T Q Y S R A p.640 . | 21 . . . . . g.105234 GTCTTTGACG | GGTGCCACTACTACTACCTACCCTGGGGTAACGTGAAACCTGTGGTGGTG c.1980 V F D G | C H Y Y Y L P W G N V K P V V V p.660 . . . . . . g.105294 CTGTCATCCTACTGGGAGGACATCAGCCATAGAATCGAGACTCAGAACCAGCTGCTTGGG c.2040 L S S Y W E D I S H R I E T Q N Q L L G p.680 . | 22 . . . . . g.107387 ATTGCTGACCGGCTG | GAAGCTGGCCTGGAGCAGGTCCACCTGGCCCTGAAGGCGCAGTGC c.2100 I A D R L | E A G L E Q V H L A L K A Q C p.700 . . . . . . g.107447 TCCACGGAGGACGTGGACTCGCTGGTGGCTCAGCTGACGGATGAGCTCATCGCAGGCTGC c.2160 S T E D V D S L V A Q L T D E L I A G C p.720 | 23 . . . . . . g.113187 AG | CCAGCCTCTGGGTGACATCCATGAGACACCCTCTGCCACCCACCTGGACCAGTACCTG c.2220 S | Q P L G D I H E T P S A T H L D Q Y L p.740 . . . . . . g.113247 TACCAGCTGCGCACCCATCACCTGAGCCAAATCACTGAGGCTGCCCTGGCCCTGAAGCTC c.2280 Y Q L R T H H L S Q I T E A A L A L K L p.760 . . . . . . g.113307 GGCCACAGTGAGCTCCCTGCAGCTCTGGAGCAGGCGGAGGACTGGCTCCTGCGTCTGCGT c.2340 G H S E L P A A L E Q A E D W L L R L R p.780 . | 24 . . . . . g.115480 GCCCTGGCAGAGGAG | CCCCAGAACAGCCTGCCGGACATCGTCATCTGGATGCTGCAGGGA c.2400 A L A E E | P Q N S L P D I V I W M L Q G p.800 . . . . . . g.115540 GACAAGCGTGTGGCATACCAGCGGGTGCCCGCCCACCAAGTCCTCTTCTCCCGGCGGGGT c.2460 D K R V A Y Q R V P A H Q V L F S R R G p.820 . . . . . | 25 . g.119337 GCCAACTACTGTGGCAAGAATTGTGGGAAGCTACAGACAATCTTTCTGAAA | TATCCGATG c.2520 A N Y C G K N C G K L Q T I F L K | Y P M p.840 . . . . . . g.119397 GAGAAGGTGCCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTC c.2580 E K V P G A R M P V Q I R V K L W F G L p.860 . . . . . . g.119457 TCAGTGGATGAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAA c.2640 S V D E K E F N Q F A E G K L S V F A E p.880 | 26 . . . . . . g.119606 ACC | TATGAGAACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACC c.2700 T | Y E N E T K L A L V G N W G T T G L T p.900 . . . . . . g.119666 TACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCC c.2760 Y P K F S D V T G K I K L P K D S F R P p.920 . . . . . | 27 . g.121207 TCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGAC | TCTGCTCCAT c.2820 S A G W T W A G D W F V C P E K T | L L H p.940 . . . . . . g.121267 GACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTT c.2880 D M D A G H L S F V E E V F E N Q T R L p.960 . . . . | 28 . . g.121621 CCCGGAGGCCAGTGGATCTACATGAGTGACAACTACACCGATGTG | AACGGGGAGAAGGTG c.2940 P G G Q W I Y M S D N Y T D V | N G E K V p.980 . . . . . . g.121681 CTTCCCAAGGATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCC c.3000 L P K D D I E C P L G W K W E D E E W S p.1000 . . . | 29 . . . g.122005 ACAGACCTCAACCGGGCTGTCGATGAGCAAG | GCTGGGAGTATAGCATCACCATCCCCCCG c.3060 T D L N R A V D E Q G | W E Y S I T I P P p.1020 . . . . . . g.122065 GAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGG c.3120 E R K P K H W V P A E K M Y Y T H R R R p.1040 . . . . . | 30 . g.125581 CGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGG | CACAGG c.3180 R W V R L R R R D L S Q M E A L K R | H R p.1060 . . . . . . g.125641 CAGGCGGAGGCGGAGGGCGAGGGCTGGGAGTACGCCTCTCTTTTTGGCTGGAAGTTCCAC c.3240 Q A E A E G E G W E Y A S L F G W K F H p.1080 . . . . . . g.125701 CTCGAGTACCGCAAGACAGATGCCTTCCGCCGCCGCCGCTGGCGCCGTCGCATGGAGCCA c.3300 L E Y R K T D A F R R R R W R R R M E P p.1100 . . . . | 31 . g.140982 CTGGAGAAGACGGGGCCTGCAGCTGTGTTTGCCCTTGAGGGGGCCCTG | GGCGGCGTGATG c.3360 L E K T G P A A V F A L E G A L | G G V M p.1120 . . . . . . g.141042 GATGACAAGAGTGAAGATTCCATGTCCGTCTCCACCTTGAGCTTCGGTGTGAACAGACCC c.3420 D D K S E D S M S V S T L S F G V N R P p.1140 . . | 32 . . . . g.141626 ACGATTTCCTGCATATTCGACT | ATGGGAACCGCTACCATCTACGCTGCTACATGTACCAG c.3480 T I S C I F D Y | G N R Y H L R C Y M Y Q p.1160 . . . . | 33 . . g.149961 GCCCGGGACCTGGCTGCGATGGACAAGGACTCTTTTTCTG | ATCCCTATGCCATCGTCTCC c.3540 A R D L A A M D K D S F S D | P Y A I V S p.1180 . . . . . . g.150021 TTCCTGCACCAGAGCCAGAAGACGGTGGTGGTGAAGAACACCCTTAACCCCACCTGGGAC c.3600 F L H Q S Q K T V V V K N T L N P T W D p.1200 . . . . . . g.150081 CAGACGCTCATCTTCTACGAGATCGAGATCTTTGGCGAGCCGGCCACAGTTGCTGAGCAA c.3660 Q T L I F Y E I E I F G E P A T V A E Q p.1220 . . . . | 34 . . g.152097 CCGCCCAGCATTGTGGTGGAGCTGTACGACCATGACACTTAT | GGTGCAGACGAGTTTATG c.3720 P P S I V V E L Y D H D T Y | G A D E F M p.1240 . . . . . . g.152157 GGTCGCTGCATCTGTCAACCGAGTCTGGAACGGATGCCACGGCTGGCCTGGTTCCCACTG c.3780 G R C I C Q P S L E R M P R L A W F P L p.1260 . . . . . . g.152217 ACGAGGGGCAGCCAGCCGTCGGGGGAGCTGCTGGCCTCTTTTGAGCTCATCCAGAGAGAG c.3840 T R G S Q P S G E L L A S F E L I Q R E p.1280 | 35 . . . | 36 . . . g.154180 AAG | CCGGCCATCCACCATATTCCTGGTTTTGAG | GTGCAGGAGACATCAAGGATCCTGGAT c.3900 K | P A I H H I P G F E | V Q E T S R I L D p.1300 | 37 . . . . . . g.162679 GAG | TCTGAGGACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATG c.3960 E | S E D T D L P Y P P P Q R E A N I Y M p.1320 . . . . | 38 . . g.162857 GTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAG | ATCCTGGCATGGGGC c.4020 V P Q N I K P A L Q R T A I E | I L A W G p.1340 . . . . . . g.162917 CTGCGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAG c.4080 L R N M K S Y Q L A N I S S P S L V V E p.1360 . . . . . . g.162977 TGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTT c.4140 C G G Q T V Q S C V I R N L R K N P N F p.1380 . . | 39. . . . g.164051 GACATCTGCACCCTCTTCATGGAAGTG | ATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCC c.4200 D I C T L F M E V | M L P R E E L Y C P P p.1400 . . . . . . g.164111 ATCACCGTCAAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGT c.4260 I T V K V I D N R Q F G R R P V V G Q C p.1420 . . . . . . g.164171 ACCATCCGCTCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCA c.4320 T I R S L E S F L C D P Y S A E S P S P p.1440 . | 40 . . . . . g.164758 CAGGGTGGCCCAG | ACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATT c.4380 Q G G P D | D V S L L S P G E D V L I D I p.1460 . . . | 41 . . . g.195372 GATGACAAGGAGCCCCTCATCCCCATCCAG | GAGGAAGAGTTCATCGATTGGTGGAGCAAA c.4440 D D K E P L I P I Q | E E E F I D W W S K p.1480 ^ alternatively spliced exon 40b . . . . . . g.195432 TTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGAC c.4500 F F A S I G E R E K C G S Y L E K D F D p.1500 | 42 . . . . . g.207590 ACCCTGAAG | GTCTATGACACACAGCTGGAGAATGTGGAGGCCTTTGAGGGCCTGTCTGAC c.4560 T L K | V Y D T Q L E N V E A F E G L S D p.1520 . . . . . . g.207650 TTTTGTAACACCTTCAAGCTGTACCGGGGCAAGACGCAGGAGGAGACAGAAGATCCATCT c.4620 F C N T F K L Y R G K T Q E E T E D P S p.1540 . | 43 . . . . g.210297 GTGATTGGTGAATTTAAG | GGCCTCTTCAAAATTTATCCCCTCCCAGAAGACCCAGCCATC c.4680 V I G E F K | G L F K I Y P L P E D P A I p.1560 . . . . . . g.210357 CCCATGCCCCCAAGACAGTTCCACCAGCTGGCCGCCCAGGGACCCCAGGAGTGCTTGGTC c.4740 P M P P R Q F H Q L A A Q G P Q E C L V p.1580 . . . . . | 44 . g.211943 CGTATCTACATTGTCCGAGCATTTGGCCTGCAGCCCAAGGACCCCAATGGAAAG | TGTGAT c.4800 R I Y I V R A F G L Q P K D P N G K | C D p.1600 . . . . . . g.212003 CCTTACATCAAGATCTCCATAGGGAAGAAATCAGTGAGTGACCAGGATAACTACATCCCC c.4860 P Y I K I S I G K K S V S D Q D N Y I P p.1620 . . | 45 . . . . g.215679 TGCACGCTGGAGCCCGTATTTGGAAA | GATGTTCGAGCTGACCTGCACTCTGCCTCTGGAG c.4920 C T L E P V F G K | M F E L T C T L P L E p.1640 . . . . . . g.215739 AAGGACCTAAAGATCACTCTCTATGACTATGACCTCCTCTCCAAGGACGAAAAGATCGGT c.4980 K D L K I T L Y D Y D L L S K D E K I G p.1660 . . . . . . g.215799 GAGACGGTCGTCGACCTGGAGAACAGGCTGCTGTCCAAGTTTGGGGCTCGCTGTGGACTC c.5040 E T V V D L E N R L L S K F G A R C G L p.1680 . | 46. . . . . g.216582 CCACAGACCTACTGTGT | CTCTGGACCGAACCAGTGGCGGGACCAGCTCCGCCCCTCCCAG c.5100 P Q T Y C V | S G P N Q W R D Q L R P S Q p.1700 . . . . . . g.216642 CTCCTCCACCTCTTCTGCCAGCAGCATAGAGTCAAGGCACCTGTGTACCGGACAGACCGT c.5160 L L H L F C Q Q H R V K A P V Y R T D R p.1720 . . . . | 47 . . g.218773 GTAATGTTTCAGGATAAAGAATATTCCATTGAAGAGATAG | AGGCTGGCAGGATCCCAAAC c.5220 V M F Q D K E Y S I E E I E | A G R I P N p.1740 . . . . . . g.218833 CCACACCTGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTG c.5280 P H L G P V E E R L A L H V L Q Q Q G L p.1760 . . . . . . g.218893 GTCCCGGAGCACGTGGAGTCACGGCCCCTCTACAGCCCCCTGCAGCCAGACATCGAGCAG c.5340 V P E H V E S R P L Y S P L Q P D I E Q p.1780 | 48 . . . . . . g.220191 | GGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCC c.5400 | G K L Q M W V D L F P K A L G R P G P P p.1800 . . | 49 . . . g.220520 TTCAACATCACCCCACGGAGAGCCAGAAG | GTTTTTCCTGCGTTGTATTATCTGGAATACC c.5460 F N I T P R R A R R | F F L R C I I W N T p.1820 . . . . . . g.220580 AGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTG c.5520 R D V I L D D L S L T G E K M S D I Y V p.1840 | 50 . . . . . . g.221037 AAAGG | TTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCC c.5580 K G | W M I G F E E H K Q K T D V H Y R S p.1860 . . . . . . g.221097 CTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCT c.5640 L G G E G N F N W R F I F P F D Y L P A p.1880 . . | 51. . . . g.225607 GAGCAAGTCTGTACCATTGCCAAGAAG | GATGCCTTCTGGAGGCTGGACAAGACTGAGAGC c.5700 E Q V C T I A K K | D A F W R L D K T E S p.1900 . . . . . . g.225667 AAAATCCCAGCACGAGTGGTGTTCCAGATCTGGGACAATGACAAGTTCTCCTTTGATGAT c.5760 K I P A R V V F Q I W D N D K F S F D D p.1920 | 52. . . . . . g.230487 TTTCTGG | GCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAG c.5820 F L G | S L Q L D L N R M P K P A K T A K p.1940 . . . . . . g.230547 AAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTT c.5880 K C S L D Q L D D A F H P E W F V S L F p.1960 . . . . . . g.230607 GAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATA c.5940 E Q K T V K G W W P C V A E E G E K K I p.1980 | 53 . . . . . . g.232432 CTGGCG | GGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGG c.6000 L A | G K L E M T L E I V A E S E H E E R p.2000 . . . . . | 54 . g.233911 CCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAG | GCGC c.6060 P A G Q G R D E P N M N P K L E D P R | R p.2020 . . . . . . g.233971 CCCGACACCTCCTTCCTGTGGTTTACCTCCCCATACAAGACCATGAAGTTCATCCTGTGG c.6120 P D T S F L W F T S P Y K T M K F I L W p.2040 . . . . . . g.234031 CGGCGTTTCCGGTGGGCCATCATCCTCTTCATCATCCTCTTCATCCTGCTGCTGTTCCTG c.6180 R R F R W A I I L F I I L F I L L L F L p.2060 . . | 55 . . . . g.237867 GCCATCTTCATCTACGCCTTCCCG | AACTATGCTGCCATGAAGCTGGTGAAGCCCTTCAGC c.6240 A I F I Y A F P | N Y A A M K L V K P F S p.2080 g.237870 TGA c.6243 X p.2080 . . . . . . g.237930 ggactctcctgccctgtagaaggggccgtggggtcccctccagcatgggactggcctgcc c.*60 . . . . . . g.237990 tcctccgcccagctcggcgagctcctccagacctcctaggcctgattgtcctgccagggt c.*120 . . . . . . g.238050 gggcagacagacagatggaccggcccacactcccagagttgctaacatggagctctgaga c.*180 . . . . . . g.238110 tcaccccacttccatcatttccttctcccccaacccaacgcttttttggatcagctcaga c.*240 . . . g.238141 catatttcagtataaaacagttggaaccaca c.*271 (downstream sequence)Legend:
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