(used for variant description)
(last modified October 29, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_002283.3 in the KRT85 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008353.1, covering KRT85 transcript NM_002283.3.
(upstream sequence)
. . . . . . g.5060
agctctccccaccaataaaaggaccagggaggatcagagagagcagaaggatcctgagcc c.-61
. . . . . . g.5120
tcgcactctgccgcccgcaccaccttccgctgcctctcagactctgctcagcctcacacg c.-1
. . . . . . g.5180
ATGTCGTGCCGCTCCTACAGGATCAGCTCAGGATGCGGGGTCACCAGGAACTTCAGCTCC c.60
M S C R S Y R I S S G C G V T R N F S S p.20
. . . . . . g.5240
TGCTCAGCTGTGGCCCCCAAAACTGGCAACCGCTGCTGCATCAGCGCCGCCCCCTACCGA c.120
C S A V A P K T G N R C C I S A A P Y R p.40
. . . . . . g.5300
GGGGTGTCCTGCTACCGAGGGCTGACGGGCTTCGGCAGCCGCAGCCTCTGCAACCTGGGC c.180
G V S C Y R G L T G F G S R S L C N L G p.60
. . . . . . g.5360
TCCTGCGGGCCCCGGATAGCTGTAGGTGGCTTCCGAGCCGGCTCCTGCGGACGCAGCTTC c.240
S C G P R I A V G G F R A G S C G R S F p.80
. . . . . . g.5420
GGCTACCGCTCCGGGGGCGTGTGCGGACCCAGCCCCCCATGCATCACTACCGTGTCGGTC c.300
G Y R S G G V C G P S P P C I T T V S V p.100
. . . . . . g.5480
AACGAGAGCCTCCTCACGCCCCTCAACCTGGAGATCGACCCCAACGCACAGTGCGTGAAG c.360
N E S L L T P L N L E I D P N A Q C V K p.120
. . . . . . g.5540
CAGGAGGAGAAGGAGCAGATCAAGTCCCTCAACAGCAGGTTCGCGGCCTTCATCGACAAG c.420
Q E E K E Q I K S L N S R F A A F I D K p.140
| 02 . . . . . . g.7415
| GTGCGCTTCCTGGAGCAGCAGAACAAGCTGCTGGAGACCAAGTGGCAGTTCTACCAGAAC c.480
| V R F L E Q Q N K L L E T K W Q F Y Q N p.160
. . . . . . g.7475
CAGCGCTGCTGCGAGAGCAACCTGGAGCCACTGTTCAGTGGCTACATCGAGACTCTGCGG c.540
Q R C C E S N L E P L F S G Y I E T L R p.180
. . . . . . g.7535
CGGGAGGCCGAGTGCGTGGAGGCCGACAGCGGGAGGCTGGCCTCAGAGCTCAACCATGTG c.600
R E A E C V E A D S G R L A S E L N H V p.200
. . | 03 . . . g.8190
CAGGAGGTGCTGGAGGGCTACAAGAAGAA | GTATGAAGAGGAGGTGGCCCTGAGAGCCACA c.660
Q E V L E G Y K K K | Y E E E V A L R A T p.220
. . . | 04 . . . g.8392
GCAGAGAATGAGTTTGTCGTTCTAAAGAAG | GACGTGGACTGTGCCTACCTGCGGAAATCA c.720
A E N E F V V L K K | D V D C A Y L R K S p.240
. . . . . . g.8452
GACCTGGAGGCCAATGTGGAGGCCCTGGTGGAGGAGTCTAGCTTCCTGAGGCGCCTCTAT c.780
D L E A N V E A L V E E S S F L R R L Y p.260
| 05 . . . . . . g.9169
GAAGAG | GAGATCCGCGTTCTCCAAGCCCACATCTCAGACACCTCGGTCATAGTCAAGATG c.840
E E | E I R V L Q A H I S D T S V I V K M p.280
. . . . . . g.9229
GACAACAGCCGAGACCTGAACATGGACTGCATCATCGCTGAGATCAAGGCTCAGTATGAC c.900
D N S R D L N M D C I I A E I K A Q Y D p.300
. . . . . | 06 . g.9555
GATGTTGCCAGCCGCAGCCGGGCCGAGGCTGAGTCCTGGTACCGTAGCAAG | TGTGAGGAG c.960
D V A S R S R A E A E S W Y R S K | C E E p.320
. . . . . . g.9615
ATGAAGGCCACGGTGATCAGGCATGGGGAGACCCTGCGCCGCACCAAGGAGGAGATCAAC c.1020
M K A T V I R H G E T L R R T K E E I N p.340
. . . . . | 07. g.10057
GAGCTGAACCGCATGATCCAGAGGCTGACGGCCGAGATTGAGAATGCCAAGTGCCAG | CGT c.1080
E L N R M I Q R L T A E I E N A K C Q | R p.360
. . . . . . g.10117
GCCAAGCTGGAGGCTGCTGTGGCTGAGGCAGAGCAGCAGGGTGAGGCGGCCCTCAGCGAT c.1140
A K L E A A V A E A E Q Q G E A A L S D p.380
. . . . . . g.10177
GCCCGCTGCAAGCTGGCTGAGCTGGAGGGCGCCCTGCAGAAGGCCAAGCAGGACATGGCC c.1200
A R C K L A E L E G A L Q K A K Q D M A p.400
. . . . . . g.10237
TGCCTGCTCAAGGAGTACCAGGAGGTGATGAACTCCAAGCTGGGCCTGGACATCGAGATC c.1260
C L L K E Y Q E V M N S K L G L D I E I p.420
. . . | 08 . . g.11049
GCCACCTACAGGCGCCTGCTGGAGGGCGAGGAACACAG | GCTGTGTGAAGGTGTGGGCTCT c.1320
A T Y R R L L E G E E H R | L C E G V G S p.440
. | 09 . . . . . g.11529
GTGAATGTCT | GTGTCAGCAGCTCCCGTGGTGGAGTCTCCTGTGGGGGCCTCTCCTACAGC c.1380
V N V C | V S S S R G G V S C G G L S Y S p.460
. . . . . . g.11589
ACCACCCCAGGGCGCCAGATCACTTCTGGCCCCTCAGCCATAGGCGGCAGCATCACGGTG c.1440
T T P G R Q I T S G P S A I G G S I T V p.480
. . . . . . g.11649
GTGGCCCCTGACTCCTGTGCCCCCTGCCAGCCTCGTTCCTCCAGCTTCAGCTGCGGGAGT c.1500
V A P D S C A P C Q P R S S S F S C G S p.500
. . g.11673
AGCCGGTCGGTCCGCTTTGCCTAG c.1524
S R S V R F A X p.507
. . . . . . g.11733
tagagtcatggagccagggcttcctgccaagcacctgcctgcctgcatcactgcactgaa c.*60
. . . . . . g.11793
tggcatgtgaatggaaaatgtgtgcttgcttccagaatcttctggatgttcctacagagg c.*120
. . . . . . g.11853
gaaagacctacagagggaaagaccctcgggccgctcccctgcgccttttcatgctaggga c.*180
. . . . . . g.11913
gatgcatcctagttgtcctcctggcagctgttttcagaggcattcccagcccttcactta c.*240
. . . . . . g.11973
actcctacttagctccaaaatacctgtatccaatttgtattattcccccagctctcaggg c.*300
. . . . . . g.12033
acaagaccagtcccccagcgtggtggtcagcacggaagctccaccttctgggtggaggcg c.*360
. . . . . . g.12093
ccatcctaaccatccagccaggccacccacaacccgagaatcagggagaaagtccctccc c.*420
. . . . . . g.12153
cagcagccccctcctcctggctgggaagaatggtcccccagcaagcacttgcctgttcat c.*480
. . . . . . g.12213
tcctgttcatgttttgcttctctctcagactgccttcctgcttctgggctaacctgttcc c.*540
. . . . . . g.12273
agccaggctcctcatgtgacctcgcagttgagaagcccattatcgtggggcatccttttg c.*600
. . . . . . g.12333
cctacagcccctggttagggcactttggacaggtcttgctattcagtgaacctttgtaca c.*660
. . . . . . g.12393
tttcaaagaagactccatggctgctccagatgcccccttgctgggtgcaggtggggactg c.*720
. . . . . . g.12453
tccaatgcagagctggcgggacagagagttaagccacttcctgggtctccttcttgtgac c.*780
. . . . . . g.12513
tgtctatgggtgcattgccttctgggttgtctcgatctgtgtttcaataaatgccgctgc c.*840
g.12520
aatgcaa c.*847
(downstream sequence)
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