(used for variant description)
(last modified December 7, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_002284.3 in the KRT86 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering KRT86 transcript NM_002284.3.
(upstream sequence)
. . . . . g.5052
tccattcggacgtctccatcctcagaacctcctctcttccccaaaaagcacc c.-1
. . . . . . g.5112
ATGACTTGTGGATCTTACTGTGGTGGCCGCGCCTTCAGCTGCATCTCGGCCTGCGGGCCC c.60
M T C G S Y C G G R A F S C I S A C G P p.20
. . . . . . g.5172
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.5232
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.5292
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.5352
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.5412
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.6286
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.6346
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.6406
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.7268
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.8088
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.8148
CGCAAATCAGACCTGGAGGCCAATGTGGAGGCCCTGATCCAGGAGATCGACTTCCTGAGG 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.8420
CGGCTGTATGAGGAG | GAGATCCGCGTTCTCCAGTCCCACATCTCAGACACCTCCGTGGTT c.780
R L Y E E | E I R V L Q S H I S D T S V V p.260
. . . . . . g.8480
GTCAAGCTGGACAACAGCCGGGACCTGAACATGGACTGCATCATTGCCGAGATCAAGGCA 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.8540
CAGTACGATGACATTGTCACCCGTAGCCGGGCTGAGGCCGAGTCCTGGTACCGCAGCAAG 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.8858
| 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.8918
GAGATCAACGAGCTGAACCGCATGATCCAGAGGCTGACGGCTGAGGTGGAGAATGCCAAG 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.9249
TGCCAG | AATTCCAAGCTGGAGGCTGCGGTGGCTCAGTCTGAGCAGCAGGGTGAGGCGGCC 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.9309
CTCAGCGATGCCCGCTGCAAGTTGGCCGAGCTGGAGGGTGCCCTGCAGAAGGCCAAGCAG 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.9369
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.11381
ATCGAGATCGCCACCTACAGGCGCCTGCTGGAGGGCGAGGAGCAGAG | GCTGTGCGAGGGC 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.11580
GTCGGCTCGGTGAATGTCT | GCGTCAGCAGCTCCCGCGGTGGCGTTGTCTGTGGCGATCTC c.1320
V G S V N V C | V S S S R G G V V C G D L p.440
. . . . . . g.11640
TGCGCCTCCACTACTGCCCCTGTTGTCTCCACCAGAGTCAGTAGCGTCCCCAGCAACAGC c.1380
C A S T T A P V V S T R V S S V P S N S p.460
. . . . . . g.11700
AACGTGGTGGTGGGCACTACTAACGCCTGCGCCCCCTCCGCCCGGGTTGGCGTCTGCGGC c.1440
N V V V G T T N A C A P S A R V G V C G p.480
. . g.11721
GGCAGCTGTAAGAGGTGCTAG c.1461
G S C K R C X p.486
. . . . . . g.11781
gaggctgccgcctccgccagcgcctgtcgccgtcactctccacccagccagtacctcgcg c.*60
. . . . . . g.11841
ccaccagaacgcgccgcccgcgccggcctcccaatagccgccgcccgctgcctgcactct c.*120
. . . . . . g.11901
aagcgccctccccaccgctccgctccgggagccatccccggtcgcaggagtccggggagg c.*180
. . . . . . g.11961
gccgggaggcgccatggtctctctctgtagcctttcctggtagtcaatttgttgtcccga c.*240
. . . . . . g.12021
ggattcatctttttcttccgcctgccttctgttttttttgctgtatacattggtcttgcc c.*300
. . . . . . g.12081
tgagctcttccccaaagcttggaggaacgggggaggcccgggaatgtccctgtctgcacg c.*360
. . . . . . g.12141
acctgggactctgcccatgtgcttttgcctgtggaatggagacgcggaccctggatagtg c.*420
. . . . . . g.12201
gttctatgactctgcgagggacaggcccacgcgtgtggggagaacatctcccttccgggg c.*480
. . . . . . g.12261
ctgccctcaagagcttctgaaaaactaatgactctgctgccttctcctttgtctttgttt c.*540
. . . g.12299
cactctgtgtttccaataaactcattgtagcgaatcaa c.*578
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 29
©2004-2023 Leiden University Medical Center