(used for mutation description)
(last
modified July 14, 2010)
This file was created to facilitate the description of sequence variants in the POMT2 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008897.1, covering POMT2 transcript NM_013382.5.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . g.5021
cgcctcctgccgcctcctagc c.-181
. . . . . . g.5081
ggcccgggccgcgaccacgctgcccgccccgccccgagcccggggccccgcgctccgctg c.-121
. . . . . . g.5141
cagtgaagggcgttgcatttcccggggtaccccgagctgccctcttgtgactccttggcg c.-61
. . . . . . g.5201
gggcggctggtcagacaaagtgtgcctccgggccggagggcgacccagaggagggggaag c.-1
. . . . . . g.5261
ATGCCGCCGGCCACGGGCGGAGGCCTGGCAGAGTCCGAGCTGCGTCCCCGGAGGGGCCGC c.60
M P P A T G G G L A E S E L R P R R G R p.20
. . . . . . g.5321
TGTGGCCCCCAGGCTGCTAGGGCCGCAGGCCGGGACGTGGCCGCTGAGGCTGTGGCGCGA c.120
C G P Q A A R A A G R D V A A E A V A R p.40
. . . . . . g.5381
AGCCCCAAACGGCCTGCTTGGGGCTCACGGCGCTTCGAGGCGGTCGGCTGGTGGGCCCTG c.180
S P K R P A W G S R R F E A V G W W A L p.60
. . . . . . g.5441
CTGGCCTTGGTGACGCTGCTGTCCTTCGCCACCCGCTTCCACCGCTTGGACGAGCCGCCG c.240
L A L V T L L S F A T R F H R L D E P P p.80
| 02 . . . . . g.13901
CACATCTG | TTGGGATGAGACTCACTTTGGAAAAATGGGAAGTTACTATATCAACCGTACA c.300
H I C | W D E T H F G K M G S Y Y I N R T p.100
. . . | 03 . . . g.19468
TTTTTCTTTGATGTGCACCCGCCCCTGGGAAAG | ATGCTGATAGGTCTTGCTGGCTACCTG c.360
F F F D V H P P L G K | M L I G L A G Y L p.120
. . . . . . g.19528
AGTGGATATGATGGTACCTTTTTGTTCCAGAAGCCTGGGGATAAATATGAGCATCACAGC c.420
S G Y D G T F L F Q K P G D K Y E H H S p.140
. | 04 . . . . g.21124
TACATGGGAATGAGAGGA | TTCTGTGCATTCCTTGGCTCCTGGCTGGTCCCCTTTGCCTAC c.480
Y M G M R G | F C A F L G S W L V P F A Y p.160
. . . . . . g.21184
CTCACTGTACTGGATCTGTCCAAGTCCCTCTCGGCAGCACTGCTCACAGCTGCCCTCCTC c.540
L T V L D L S K S L S A A L L T A A L L p.180
| 05. . . . . . g.22992
ACCTTTG | ACACGGGATGCCTCACTCTGTCCCAGTACATCCTCCTTGACCCCATCCTGATG c.600
T F D | T G C L T L S Q Y I L L D P I L M p.200
. . . . . | 06 . g.24637
TTCTTCATCATGGCTGCCATGCTGAGCATGGTCAAGTACAACTCTTGCGCCGACAG | GCCC c.660
F F I M A A M L S M V K Y N S C A D R | P p.220
. . . . . . g.24697
TTCTCTGCCCCCTGGTGGTTCTGGCTCAGCCTGACTGGCGTTAGTCTTGCTGGTGCTTTA c.720
F S A P W W F W L S L T G V S L A G A L p.240
. . . . . . g.24757
GGGGTCAAGTTTGTTGGCCTCTTTATCATCCTTCAAGTGGGGCTGAACACCATTGCAGAC c.780
G V K F V G L F I I L Q V G L N T I A D p.260
. . . | 07 . . . g.26345
CTTTGGTACCTGTTCGGAGACCTCAGTCTTTCATTG | GTGACTGTGGGAAAACACCTGACT c.840
L W Y L F G D L S L S L | V T V G K H L T p.280
. . . . . . g.26405
GCTCGTGTCCTGTGCCTCATAGTGCTGCCCCTGGCTCTCTATACAGCCACCTTTGCTGTT c.900
A R V L C L I V L P L A L Y T A T F A V p.300
. . | 08 . . . . g.27148
CACTTCATGGTGCTGAGTAAAAG | TGGCCCTGGTGACGGTTTCTTCAGTTCTGCCTTCCAG c.960
H F M V L S K S | G P G D G F F S S A F Q p.320
. . . . | 09 . . g.29623
GCCCGGCTTTCAGGGAACAACCTGCACAATGCTTCCATCCCTGAAC | ACCTGGCCTACGGC c.1020
A R L S G N N L H N A S I P E H | L A Y G p.340
. . . . . . g.29683
TCTGTGATCACTGTGAAGAACCTCCGGATGGCCATCGGCTATCTGCACTCCCACAGGCAC c.1080
S V I T V K N L R M A I G Y L H S H R H p.360
. . . | 10 . . . g.34526
CTCTACCCCGAGGGCATTGGTGCCCGTCAGCAGCAG | GTCACCACCTATTTGCACAAGGAC c.1140
L Y P E G I G A R Q Q Q | V T T Y L H K D p.380
. . . . | 11 . . g.37068
TACAACAACCTGTGGATTATCAAGAAACATAACACAAACTCAG | ATCCCCTAGACCCTTCC c.1200
Y N N L W I I K K H N T N S D | P L D P S p.400
. . . . . | 12 . g.39067
TTCCCAGTGGAGTTTGTAAGACATGGAGACATTATTCGACTAGAACACAAAGA | AACTTCC c.1260
F P V E F V R H G D I I R L E H K E | T S p.420
. . . . . . g.39127
CGGAACTTGCACAGTCACTATCATGAGGCCCCCATGACCCGGAAGCACTATCAGGTCACC c.1320
R N L H S H Y H E A P M T R K H Y Q V T p.440
. | 13 . . . . . g.40298
GGCTATGGCATA | AATGGAACAGGGGACTCAAATGATTTCTGGCGGATTGAGGTCGTAAAC c.1380
G Y G I | N G T G D S N D F W R I E V V N p.460
. . . . . . g.40358
AGAAAATTTGGAAACCGGATCAAAGTGCTGAGAAGTCGAATTCGCTTCATCCATTTGGTC c.1440
R K F G N R I K V L R S R I R F I H L V p.480
. . . . | 14 . . g.40857
ACAGGTTGTGTCCTGGGCTCCTCGGGAAAGGTTCTGCCCAAGTG | GGGCTGGGAGCAGTTG c.1500
T G C V L G S S G K V L P K W | G W E Q L p.500
. . . . . . g.40917
GAAGTTACTTGCACCCCATACCTGAAAGAAACCCTCAACTCCATCTGGAATGTGGAGGAC c.1560
E V T C T P Y L K E T L N S I W N V E D p.520
. | 15 . . . . . g.42053
CATATCAATCCCAAGT | TGCCAAACATCAGCCTGGATGTGCTACAGCCCAGTTTTCCTGAG c.1620
H I N P K L | P N I S L D V L Q P S F P E p.540
. . . | 16 . . . g.45446
ATCTTGCTGGAATCCCACATGGTCATGATCCGG | GGGAACAGTGGCCTCAAACCCAAGGAC c.1680
I L L E S H M V M I R | G N S G L K P K D p.560
. . . . | 17 . . g.45817
AATGAGTTCACGTCCAAACCCTGGCACTGGCCTATCAACTATCAG | GGCCTACGCTTCTCA c.1740
N E F T S K P W H W P I N Y Q | G L R F S p.580
. . . . | 18 . . g.45969
GGGGTCAATGACACAGATTTCCGAGTCTATCTGCTTGGCAACCCG | GTGGTTTGGTGGCTG c.1800
G V N D T D F R V Y L L G N P | V V W W L p.600
. . . . . . g.46029
AATCTGTTGAGCATCGCCCTCTACCTCCTCTCAGGGAGCATCATTGCTGTAGCCATGCAG c.1860
N L L S I A L Y L L S G S I I A V A M Q p.620
. . . | 19 . . . g.47042
AGAGGGGCACGGCTGCCAGCGGAGGTTGCAG | GGTTGTCCCAGGTCCTGCTGCGAGGAGGC c.1920
R G A R L P A E V A G | L S Q V L L R G G p.640
. . . . . . g.47102
GGCCAGGTCCTGCTCGGCTGGACACTCCATTACTTCCCGTTTTTCCTGATGGGCCGGGTC c.1980
G Q V L L G W T L H Y F P F F L M G R V p.660
. . . . . | 20 . g.47382
CTCTACTTCCACCACTACTTCCCAGCCATGCTCTTCTCAAGCATGTTGACAG | GCATTCTG c.2040
L Y F H H Y F P A M L F S S M L T G | I L p.680
. . . . . . g.47442
TGGGACACCCTCCTGCGGCTCTGTGCCTGGGGCTTGGCCTCATGGCCCCTGGCGAGGGGC c.2100
W D T L L R L C A W G L A S W P L A R G p.700
. . . . | 21. . g.48414
ATACATGTGGCGGGAATCCTGAGCCTGCTCCTGGGAACTGCCTACAG | CTTCTACCTCTTC c.2160
I H V A G I L S L L L G T A Y S | F Y L F p.720
. . . . . . g.48474
CACCCTCTGGCTTACGGGATGGTTGGTCCCCTGGCCCAGGACCCCCAAAGTCCAATGGCA c.2220
H P L A Y G M V G P L A Q D P Q S P M A p.740
. . . g.48507
GGACTAAGGTGGCTGGACTCATGGGACTTTTGA c.2253
G L R W L D S W D F X p.750
. . . . . . g.48567
ggccactgcaaagattccagcctgggtccaggaacttcccaggagagccagctgggaagc c.*60
. . . . . . g.48627
agtactggaccatccggccatgaggaagctgcctaaggagcccgaagaattctgctgctc c.*120
. . . . . . g.48687
accaggacccagctctgggagtgcagctggaatggaacccagcattggagagagccggga c.*180
. . . . . . g.48747
gagagccgcagctccgtccacagcaccacggagaggacagcgcctcttgggctgctccct c.*240
. . . . . . g.48807
cgtgcacagcgcaggggaggatgggtgccagagggtgggagtgggtgcgcgtgtgtgtat c.*300
. . . . . . g.48867
gtgagggcatgttgtccatatccctgtggaatacagaccgtgtaactggacagctgagtg c.*360
. . . . . . g.48927
tcataaactctaaaatagtccaggctatagtaatattttctggtatttttttctgttgga c.*420
. . . . . . g.48987
tttctttggttttggtttgtaagatccatcaaaaattctcagacctctgagagggccttg c.*480
. . . . . . g.49047
agggcagagaatactgacctcaccttgggatgtcaccaaaggcagagcagatgggactgt c.*540
. . . . . . g.49107
caaagttgtgctgccctccctcccacaaacaaatgaatccagcgtggaggaaggcgcgcc c.*600
. . . . . . g.49167
gccccgagctggagggcctggctcccaccatgccccccagtggctgcaggtagctggact c.*660
. . . . . . g.49227
tcctgcctgtgacgcacagagagcagcggactccggagcgtcagcctgccttagcccttg c.*720
. . . . . . g.49287
gttcctcgttttttgggattgtcacactgtgacactcgggaggaacgatgtcctatcctg c.*780
. . . . . . g.49347
ggctgctcagtgttcccaggccctgtgtgccagaggccaggtctctccaagtgcatctag c.*840
. . . . . . g.49407
cctggcctggagggcaaggcagatgcattctcctggctgctgggagagcccatgggaacc c.*900
. . . . . . g.49467
ttgcttagcgcccaaggtagatgagagacagggcagggaatctgcgtggtgctgggatgt c.*960
. . . . . . g.49527
ggggactctggcctctccagactaatgttcctgtcacctgctgagctttcccagtgtcac c.*1020
. . . . . . g.49587
ttctgcagtcctcctctgctcacccctccctcactccgtgggcaattccctttctctctg c.*1080
. . . . . . g.49647
tcactgcttcagcagtgaagacccatggcacctagaaatgcatgccagcttcctgcgtct c.*1140
. . . . . . g.49707
accactctgcagctcaaacaagaagctcagagctgccccttccacttcctccccaaaagg c.*1200
. . . . . . g.49767
gatgaagaaaaccctgtggtagaaccaaaccacccaaggccagcccttaagcctgcctcc c.*1260
. . . . . . g.49827
accttcctggtgcatgacaaaatatttcttttgtctcagaggactttgatgcttcaatat c.*1320
. . . . . . g.49887
ttaatgatgaatccgccacactccattttccctcctctgaagctcccaacaactctgaca c.*1380
. . . . . . g.49947
gggtcagatctctttaaagcatcttcaggaggcggttgccacggagactggatattggtc c.*1440
. . . . . . g.50007
ccagggacaggctgtgctacctactgggtggtggggagggaagcttctggccatgcttgg c.*1500
. . . . . . g.50067
gcattcagaccaaccatcattaatgttaatagaggaaatgcagcaacgtcaaaagcaagg c.*1560
. . . . . . g.50127
caggttggttaattagatctggggcccgatgacctccctttcccactgctacagcccttt c.*1620
. . . . . . g.50187
tgacttcccccagcaggaagcgctgtctgtgcggctgagtctgggccacttgcttaattg c.*1680
. . . . . . g.50247
catttctggcagggaaggagaggagggatggagaagctctgctcgctgcttccacctcac c.*1740
. . . . . . g.50307
cgtgtgtcctcccctcccctcccttcctctcctccccacaggcggaattgctttcttctg c.*1800
. . . . . . g.50367
agccgggtgggctctcctgcagggagaatgcaggggtctgtgcttggctcttagcaaagc c.*1860
. . . . . . g.50427
aggtggcccacagtgacctccaggaggtggctgattttcctttgtgccttcttatttctc c.*1920
. . . . . . g.50487
agtaggaacttggaagggaagagctctgaaggagccagaggggcagccaccttgcatgag c.*1980
. . . . . . g.50547
ggtgaggaaggagaagcccagccagcctctacccatccctccctcccaattaggctgcac c.*2040
. . . . . . g.50607
tggggccgaacgcttccctgggctcccactgccttctaaggagccaaggagaattccctg c.*2100
. . . . . . g.50667
cccactttctgttcctccatgcccaaactggcagatgcttctctgggagcaaggccacat c.*2160
. . . . . . g.50727
gggctgatgcagctttgagtgctcaggttctgttttctggaagttgctggagaagggctg c.*2220
. . . . . . g.50787
tcagggtgcttctatgaatatgggcttcagctgtagcacttggcagaaacgtgatgtgtc c.*2280
. . . . . . g.50847
ccacaaactgctggtggaggaagaagatgttcgtcagccaattcaacctccagccagctt c.*2340
. . . . . . g.50907
cttgagcctatttggtttaaaaaaaaaaagtcttctaatcagaagccactgattttataa c.*2400
. . g.50927
taaataacacttgttttgaa c.*2420
(downstream sequence)
Legend:
Nucleotide
numbering (following the rules of the HGVS
for a 'Coding DNA Reference Sequence') is indicated at the right of
the sequence, counting the A of the ATG translation initiating
Methionine as 1. Every 10th nucleotide is indicated by a
"." above the sequence. The Protein O-Mannosyltransferase 2
protein sequence is shown below the coding DNA sequence, with
numbering indicated at the right starting with 1 for the translation
initiating Methionine. Every 10th amino acid is shown in
bold. The position of introns is indicated by a vertical line,
splitting the two exons. The start of the first exon (transcription
initiation site) is indicated by a '\', the end of the last exon
(poly-A addition site) by a '/'. The exon number is indicated above
the first nucleotide(s) of the exon. To aid the description of frame
shift mutations, all stop codons in the +1 frame are shown in bold
while all stop codons in the +2 frame are underlined.
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