(used for mutation description)
(last modified November 27, 2010)
This file was created to facilitate the description of sequence variants in the MYOT gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008894.1, covering MYOT transcript variant-1 (NM_006790.2). Transcript variant-2 (NM_001135940.1) uses an alternative splice site in exon 2 and a translation initiation site in exon 4.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
g.5009
aagcacaga c.-301
. . . . . . g.5069
gccactagattagtctgtgagggaaggagatgcctcttccttcccttcaatagtgggtta c.-241
. . . | 02 . . g.7616
aacccagctggcaccctctggaactacgg | gaacaatattcttcaagagaaggtcactcta c.-181
. . . . . . / g.7676
ccaaagccaggagcacagtattctcaggatctcaacaaggaagagcagaccaag / gttgct c.-121
alternative splice site ^
. . . . . . g.7736
tctgattccttacaaccttccgtaattccaggcttgtggccccaaattcagggccccacc c.-61
. . . . . . g.7796
cttccaggaacaaatcattatagtaataatttgccttcatcttccatataccaactaagc c.-1
. . . . . . g.7856
ATGTTTAACTACGAACGTCCAAAACACTTCATCCAGTCCCAAAACCCATGTGGCTCCAGA c.60
M F N Y E R P K H F I Q S Q N P C G S R p.20
. . . . . . g.7916
TTGCAGCCTCCTGGACCAGAAACCTCCAGCTTCTCTAGCCAGACCAAACAGTCTTCCATT c.120
L Q P P G P E T S S F S S Q T K Q S S I p.40
. . . . . . g.7976
ATCATCCAGCCCCGCCAGTGTACAGAGCAAAGATTTTCTGCCTCCTCAACACTGAGCTCT c.180
I I Q P R Q C T E Q R F S A S S T L S S p.60
. . . . . . g.8036
CACATCACCATGTCCTCCTCTGCTTTCCCTGCTTCTCCCCAGCAGCATGCTGGCTCCAAC c.240
H I T M S S S A F P A S P Q Q H A G S N p.80
. . . . . . g.8096
CCAGGCCAAAGGGTTACAACCACCTATAACCAGTCCCCAGCCAGCTTCCTCAGCTCCATA c.300
P G Q R V T T T Y N Q S P A S F L S S I p.100
. . . . . | 03 . g.12977
TTACCATCACAGCCTGATTACAATAGCAGTAAAATCCCTTCCGCTATGGATTCCAA | CTAT c.360
L P S Q P D Y N S S K I P S A M D S N | Y p.120
. . . . . . g.13037
CAACAGTCCTCAGCTGGCCAACCTATAAATGCAAAGCCATCCCAAACTGCAAATGCTAAG c.420
Q Q S S A G Q P I N A K P S Q T A N A K p.140
. . . . . . g.13097
CCCATACCAAGAACTCCTGATCATGAAATACAAGGATCAAAAGAAGCTTTGATTCAAGAT c.480
P I P R T P D H E I Q G S K E A L I Q D p.160
. . . . . | 04 . g.14673
TTGGAAAGAAAGCTGAAATGCAAGGACACCCTTCTTCATAATGGAAATCAA | CGTCTAACA c.540
L E R K L K C K D T L L H N G N Q | R L T p.180
. . . . . . g.14733
TATGAAGAGAAGATGGCTCGCAGATTGCTAGGACCACAGAATGCAGCTGCTGTGTTTCAA c.600
Y E E K M A R R L L G P Q N A A A V F Q p.200
^ translation initiation site transcript variant 2
. . . | 05 . . . g.17987
GCTCAGGATGACAGTGGTGCACAAGACTCGCAG | CAACACAACTCAGAACATGCGCGACTG c.660
A Q D D S G A Q D S Q | Q H N S E H A R L p.220
. . | 06 . . . . g.19154
CAAGTTCCTACATCACAAGTAAG | AAGTAGATCAACCTCAAGGGGAGATGTGAATGATCAG c.720
Q V P T S Q V R | S R S T S R G D V N D Q p.240
. . . . . . g.19214
GATGCAATCCAGGAGAAATTTTACCCACCACGTTTCATTCAAGTGCCAGAGAACATGTCG c.780
D A I Q E K F Y P P R F I Q V P E N M S p.260
. . . | 07 . . . g.20552
ATTGATGAAGGAAGATTCTGCAGAATGGACTTCAAA | GTGAGTGGACTGCCAGCTCCTGAT c.840
I D E G R F C R M D F K | V S G L P A P D p.280
. . . . . . g.20612
GTGTCATGGTATCTAAATGGAAGAACAGTTCAATCAGATGATTTGCACAAAATGATAGTG c.900
V S W Y L N G R T V Q S D D L H K M I V p.300
. . . . . . g.20672
TCTGAGAAGGGTCTTCATTCACTCATCTTTGAAGTAGTCAGAGCTTCAGATGCAGGGGCT c.960
S E K G L H S L I F E V V R A S D A G A p.320
. . . . . . g.20732
TATGCATGTGTTGCCAAGAATAGAGCAGGAGAAGCCACCTTCACTGTGCAGCTGGATGTC c.1020
Y A C V A K N R A G E A T F T V Q L D V p.340
| 08 . . . . . . g.23248
CTTG | CAAAAGAACATAAAAGAGCACCAATGTTTATCTACAAACCACAGAGCAAAAAAGTT c.1080
L A | K E H K R A P M F I Y K P Q S K K V p.360
. . . . . . g.23308
TTAGAGGGAGATTCAGTGAAACTAGAATGCCAGATCTCGGCTATACCTCCACCAAAGCTT c.1140
L E G D S V K L E C Q I S A I P P P K L p.380
. . . . . | 09 . g.24018
TTCTGGAAAAGAAATAATGAAATGGTACAATTCAACACTGACCGAATAAG | CTTATATCAA c.1200
F W K R N N E M V Q F N T D R I S | L Y Q p.400
. . . . . . g.24078
GATAACACTGGAAGAGTTACTTTACTGATAAAAGATGTAAACAAGAAAGATGCTGGGTGG c.1260
D N T G R V T L L I K D V N K K D A G W p.420
. . . . . . g.24138
TATACTGTGTCAGCAGTTAATGAAGCTGGAGTGACTACATGTAACACAAGATTAGACGTT c.1320
Y T V S A V N E A G V T T C N T R L D V p.440
| 10 . . . . . . g.24413
ACGG | CACGTCCAAACCAAACTCTTCCAGCTCCTAAGCAGTTACGGGTTCGACCAACATTC c.1380
T A | R P N Q T L P A P K Q L R V R P T F p.460
. . . . . . g.24473
AGCAAATATTTAGCACTTAATGGGAAAGGTTTGAATGTAAAACAAGCTTTTAACCCAGAA c.1440
S K Y L A L N G K G L N V K Q A F N P E p.480
. . . . . g.24530
GGAGAATTTCAGCGTTTGGCAGCTCAATCTGGACTCTATGAAAGTGAAGAACTTTAA c.1497
G E F Q R L A A Q S G L Y E S E E L X p.498
. . . . . . g.24590
taactttaccaacattggaaaacagccaactacaccattagtaatatatttgattacatt c.*60
. . . . . . g.24650
tttttgaaattaatccatagctgtattaacagattatggttttaattaggtaatatagtt c.*120
. . . . . . g.24710
aatatatatttataatattatttatcctttgactcttgcacattctatgtacccctccga c.*180
. . . . . . g.24770
tttgtgaagcctacaggaaatctgggtatatggatttgtaactgcagaagactatcttaa c.*240
. . . . . . g.24830
aatacaggattttaacatttaagtcatgcacatttaacaattacaggttataaattagta c.*300
. . . . . . g.24890
tcaactttttaaacacatctaatgcttgtaataacgtttactggtactgctttctaaata c.*360
. . . . . . g.24950
ctgttttacccgttttctcttgtaggaatactaacatggtatagattatctgagtgttcc c.*420
. . . . g.24996
acagttgtatgtcaaaagaaaataaaattcaaatatttaaaacgga c.*466
(downstream sequence)
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