(used for variant description)
(last modified December 1, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_005557.3 in the KRT16 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008301.1, covering KRT16 transcript NM_005557.3.
(upstream sequence)
. g.5019
agttaggagggccccgcct c.-121
. . . . . . g.5079
tccccagctgcatataaaggtctctggggttggaggcagccacagcacgctctcagcctt c.-61
. . . . . . g.5139
cctgagcacctttccttctttcagccaactgctcactcgctcacctccctccttggcacc c.-1
. . . . . . g.5199
ATGACCACCTGCAGCCGCCAGTTCACCTCCTCCAGCTCCATGAAGGGCTCCTGCGGCATC c.60
M T T C S R Q F T S S S S M K G S C G I p.20
. . . . . . g.5259
GGAGGCGGCATCGGGGGCGGCTCCAGCCGCATCTCCTCCGTCCTGGCCGGAGGGTCCTGC c.120
G G G I G G G S S R I S S V L A G G S C p.40
. . . . . . g.5319
CGTGCCCCCAGCACCTACGGGGGCGGCCTGTCTGTCTCCTCTCGCTTCTCCTCTGGGGGA c.180
R A P S T Y G G G L S V S S R F S S G G p.60
. . . . . . g.5379
GCCTGCGGGCTGGGGGGCGGCTATGGCGGTGGCTTCAGCAGCAGCAGCAGCTTTGGTAGT c.240
A C G L G G G Y G G G F S S S S S F G S p.80
. . . . . . g.5439
GGCTTCGGGGGAGGATATGGTGGTGGCCTTGGTGCTGGCTTCGGTGGTGGCTTGGGTGCT c.300
G F G G G Y G G G L G A G F G G G L G A p.100
. . . . . . g.5499
GGCTTTGGTGGTGGTTTTGCTGGTGGTGATGGGCTTCTGGTGGGCAGTGAGAAGGTGACC c.360
G F G G G F A G G D G L L V G S E K V T p.120
. . . . . . g.5559
ATGCAGAACCTCAATGACCGCCTGGCCTCCTACCTGGACAAGGTGCGTGCTCTGGAGGAG c.420
M Q N L N D R L A S Y L D K V R A L E E p.140
. . . . . . g.5619
GCCAACGCCGACCTGGAAGTGAAGATCCGTGACTGGTACCAGAGGCAGCGGCCCAGTGAG c.480
A N A D L E V K I R D W Y Q R Q R P S E p.160
. . . . . | 02 . g.6115
ATCAAAGACTACAGTCCCTACTTCAAGACCATCGAGGACCTGAGGAACAAG | ATCATTGCG c.540
I K D Y S P Y F K T I E D L R N K | I I A p.180
. . . . . . g.6175
GCCACCATTGAGAATGCGCAGCCCATTTTGCAGATTGACAATGCCAGGCTGGCAGCCGAT c.600
A T I E N A Q P I L Q I D N A R L A A D p.200
. | 03 . . . . . g.6372
GACTTCAGGACCAA | GTATGAGCATGAACTGGCCCTGCGGCAGACTGTGGAGGCCGACGTC c.660
D F R T K | Y E H E L A L R Q T V E A D V p.220
. . . . . . g.6432
AATGGCCTGCGCCGGGTGTTGGATGAGCTGACCCTGGCCAGGACTGACCTGGAGATGCAG c.720
N G L R R V L D E L T L A R T D L E M Q p.240
. . . . . | 04 . g.6606
ATCGAAGGCCTGAAGGAGGAGCTGGCCTACCTGAGGAAGAACCACGAGGAG | GAGATGCTT c.780
I E G L K E E L A Y L R K N H E E | E M L p.260
. . . . . . g.6666
GCTCTGAGAGGTCAGACCGGCGGAGATGTGAACGTGGAGATGGATGCTGCACCTGGCGTG c.840
A L R G Q T G G D V N V E M D A A P G V p.280
. . . . . . g.6726
GACCTGAGCCGCATCCTGAATGAGATGCGTGACCAGTACGAGCAGATGGCAGAGAAAAAC c.900
D L S R I L N E M R D Q Y E Q M A E K N p.300
. . . | 05 . . . g.6875
CGCAGAGACGCTGAGACCTGGTTCCTGAGCAAG | ACCGAGGAGCTGAACAAAGAAGTGGCC c.960
R R D A E T W F L S K | T E E L N K E V A p.320
. . . . . . g.6935
TCCAACAGCGAACTGGTACAGAGCAGCCGCAGTGAGGTGACGGAGCTCCGGAGGGTGCTC c.1020
S N S E L V Q S S R S E V T E L R R V L p.340
. . . | 06 . . g.7297
CAGGGCCTGGAGATTGAGCTGCAGTCCCAGCTCAGCATG | AAAGCATCCCTGGAGAACAGC c.1080
Q G L E I E L Q S Q L S M | K A S L E N S p.360
. . . . . . g.7357
CTGGAGGAGACCAAAGGCCGCTACTGCATGCAGCTGTCCCAGATCCAGGGACTGATTGGC c.1140
L E E T K G R Y C M Q L S Q I Q G L I G p.380
. . . . . . g.7417
AGTGTGGAGGAGCAGCTGGCCCAGCTACGCTGTGAGATGGAGCAGCAGAGCCAGGAGTAC c.1200
S V E E Q L A Q L R C E M E Q Q S Q E Y p.400
. . . . . . g.7477
CAGATCTTGCTGGATGTGAAGACGCGGCTGGAGCAGGAGATTGCCACCTACCGCCGCCTG c.1260
Q I L L D V K T R L E Q E I A T Y R R L p.420
. . | 07 . . . . g.7631
CTGGAGGGCGAGGATGCCCA | CCTTTCCTCCCAGCAAGCATCTGGCCAATCCTATTCTTCC c.1320
L E G E D A H | L S S Q Q A S G Q S Y S S p.440
| 08. . . . . . g.7851
CGCGAGG | TCTTCACCTCCTCCTCGTCCTCTTCGAGCCGTCAGACCCGGCCCATCCTCAAG c.1380
R E V | F T S S S S S S S R Q T R P I L K p.460
. . . . g.7893
GAGCAGAGCTCATCCAGCTTCAGCCAGGGCCAGAGCTCCTAG c.1422
E Q S S S S F S Q G Q S S X p.473
. . . . . . g.7953
aactgagctgcctctaccacagcctcctgcccaccagctggcctcacctcctgaaggccc c.*60
. . . . . . g.8013
gggtcaggaccctgctctcctggcgcagttcccagctatctcccctgctcctctgctggt c.*120
. . . g.8050
ggtgggctaataaagctgactttctggttgatgcaaa c.*157
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 14
©2004-2015 Leiden University Medical Center