(used for variant description)
(last modified December 7, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_002281.3 in the KRT81 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering KRT81 transcript NM_002281.3.
(upstream sequence)
. . . . . g.5050
actccaggtcccctatcctgtcctctgcaacccaaacgtccaggaggatc c.-1
. . . . . . g.5110
ATGACCTGCGGATCAGGATTTGGTGGGCGCGCCTTCAGCTGCATCTCGGCCTGCGGGCCG c.60
M T C G S G F G G R A F S C I S A C G P p.20
. . . . . . g.5170
CGGCCCGGCCGCTGCTGCATCACCGCCGCCCCCTACCGTGGCATCTCCTGCTACCGCGGC c.120
R P G R C C I T A A P Y R G I S C Y R G p.40
. . . . . . g.5230
CTCACCGGGGGCTTCGGCAGCCACAGCGTGTGCGGAGGCTTTCGGGCCGGCTCCTGCGGA c.180
L T G G F G S H S V C G G F R A G S C G p.60
. . . . . . g.5290
CGCAGCTTCGGCTACCGCTCCGGGGGCGTGTGCGGGCCCAGTCCCCCATGCATCACCACC c.240
R S F G Y R S G G V C G P S P P C I T T p.80
. . . . . . g.5350
GTGTCGGTCAACGAGAGCCTCCTCACGCCCCTCAACCTGGAGATCGACCCCAACGCGCAG c.300
V S V N E S L L T P L N L E I D P N A Q p.100
. . . . . . g.5410
TGCGTGAAGCAGGAGGAGAAGGAGCAGATCAAGTCCCTCAACAGCAGGTTCGCGGCCTTC c.360
C V K Q E E K E Q I K S L N S R F A A F p.120
| 02 . . . . . g.6280
ATCGACAAG | GTGCGCTTCCTGGAGCAGCAGAACAAACTGCTGGAGACAAAGCTGCAGTTC c.420
I D K | V R F L E Q Q N K L L E T K L Q F p.140
. . . . . . g.6340
TACCAGAACCGCGAGTGTTGCCAGAGCAACCTGGAGCCCCTGTTTGAGGGCTACATCGAG c.480
Y Q N R E C C Q S N L E P L F E G Y I E p.160
. . . . . . g.6400
ACTCTGCGGCGGGAGGCCGAGTGCGTGGAGGCCGACAGCGGGAGGCTGGCCTCAGAGCTT c.540
T L R R E A E C V E A D S G R L A S E L p.180
. . . | 03 . . g.7262
AACCACGTGCAGGAGGTGCTGGAGGGCTACAAGAAGAA | GTATGAGGAGGAGGTTTCTCTG c.600
N H V Q E V L E G Y K K K | Y E E E V S L p.200
. . . | 04 . . g.8080
AGAGCAACAGCTGAGAACGAGTTTGTGGCTCTGAAGAAG | GATGTGGACTGCGCCTACCTC c.660
R A T A E N E F V A L K K | D V D C A Y L p.220
. . . . . . g.8140
CGCAAGTCAGACCTGGAGGCCAACGTGGAGGCCCTGATCCAGGAGATCGACTTCCTGAGG c.720
R K S D L E A N V E A L I Q E I D F L R p.240
. | 05 . . . . . g.8412
CGGCTGTATGAGGAG | GAGATCCTCATTCTCCAGTCGCACATCTCAGACACCTCCGTGGTT c.780
R L Y E E | E I L I L Q S H I S D T S V V p.260
. . . . . . g.8472
GTCAAGCTGGACAACAGCCGGGACCTGAACATGGACTGCATCATTGCCGAGATTAAGGCA c.840
V K L D N S R D L N M D C I I A E I K A p.280
. . . . . . g.8532
CAGTATGACGACATTGTCACCCGCAGCCGGGCCGAGGCCGAGTCCTGGTACCGCAGCAAG c.900
Q Y D D I V T R S R A E A E S W Y R S K p.300
| 06 . . . . . . g.8854
| TGTGAGGAGATGAAGGCCACGGTGATCAGGCACGGGGAGACCCTGCGCCGCACCAAGGAG c.960
| C E E M K A T V I R H G E T L R R T K E p.320
. . . . . . g.8914
GAGATCAATGAGCTGAACCGCATGATCCAAAGGCTGACGGCCGAGGTGGAGAATGCCAAG c.1020
E I N E L N R M I Q R L T A E V E N A K p.340
| 07 . . . . . . g.9247
TGCCAG | AACTCCAAGCTGGAGGCCGCGGTGGCCCAGTCTGAGCAGCAGGGTGAGGCGGCC c.1080
C Q | N S K L E A A V A Q S E Q Q G E A A p.360
. . . . . . g.9307
CTCAGTGATGCCCGCTGCAAGCTGGCCGAGCTGGAGGGCGCCCTGCAGAAGGCCAAGCAG c.1140
L S D A R C K L A E L E G A L Q K A K Q p.380
. . . . . . g.9367
GACATGGCCTGCCTGATCAGGGAGTACCAGGAGGTGATGAACTCCAAGCTGGGCCTGGAC c.1200
D M A C L I R E Y Q E V M N S K L G L D p.400
. . . . | 08. . g.9706
ATCGAGATCGCCACCTACAGGCGCCTGCTGGAGGGCGAGGAGCAGAG | GCTATGTGAAGGC c.1260
I E I A T Y R R L L E G E E Q R | L C E G p.420
. | 09 . . . . g.10063
ATTGGGGCTGTGAATGTCT | GTGTCAGCAGCTCCCGGGGCGGGGTCGTGTGCGGGGACCTC c.1320
I G A V N V C | V S S S R G G V V C G D L p.440
. . . . . . g.10123
TGCGTGTCAGGCTCCCGGCCAGTGACTGGCAGTGTCTGCAGCGCTCCGTGCAACGGGAAC c.1380
C V S G S R P V T G S V C S A P C N G N p.460
. . . . . . g.10183
GTGGCGGTGAGCACCGGCCTGTGTGCGCCCTGCGGCCAATTGAACACCACCTGCGGAGGG c.1440
V A V S T G L C A P C G Q L N T T C G G p.480
. . . . . . g.10243
GGTTCCTGCGGCGTGGGCTCCTGTGGTATCAGCTCCCTGGGTGTGGGGTCTTGCGGCAGC c.1500
G S C G V G S C G I S S L G V G S C G S p.500
. g.10261
AGCTGCCGGAAATGTTAG c.1518
S C R K C X p.505
. . . . . . g.10321
gcaccccaactcaagtcccaggccccaggcatctttcctgccctgccttgcttggcccat c.*60
. . . . . . g.10381
ccagtccaggcgcctggagcaagtgctcagctacttctcctgcactttgaaagacccctc c.*120
. . . . . . g.10441
ccactcctggcctcacatttctctgtgtgatcccccacttctgggctctgccaccccaca c.*180
. . . . . . g.10501
gtgggaaaggccaccctagaaagaagtccgctggcacccataggaaggggcctcaggagc c.*240
. . . . . . g.10561
aggaagggccaggaccagaaccttgcccacggcaactgccttcctgcctctccccttcct c.*300
. . . . g.10603
cctctgctcttgatctgtgtttcaataaattaatgtagccaa c.*342
(downstream sequence)
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