(used for variant description)
(last modified July 22, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000372.4 in the TYR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008748.1, covering TYR transcript NM_000372.4.
(upstream sequence)
. . g.5022
atcactgtagtagtagctggaa c.-61
. . . . . . g.5082
agagaaatctgtgactccaattagccagttcctgcagaccttgtgaggactagaggaaga c.-1
. . . . . . g.5142
ATGCTCCTGGCTGTTTTGTACTGCCTGCTGTGGAGTTTCCAGACCTCCGCTGGCCATTTC c.60
M L L A V L Y C L L W S F Q T S A G H F p.20
. . . . . . g.5202
CCTAGAGCCTGTGTCTCCTCTAAGAACCTGATGGAGAAGGAATGCTGTCCACCGTGGAGC c.120
P R A C V S S K N L M E K E C C P P W S p.40
. . . . . . g.5262
GGGGACAGGAGTCCCTGTGGCCAGCTTTCAGGCAGAGGTTCCTGTCAGAATATCCTTCTG c.180
G D R S P C G Q L S G R G S C Q N I L L p.60
. . . . . . g.5322
TCCAATGCACCACTTGGGCCTCAATTTCCCTTCACAGGGGTGGATGACCGGGAGTCGTGG c.240
S N A P L G P Q F P F T G V D D R E S W p.80
. . . . . . g.5382
CCTTCCGTCTTTTATAATAGGACCTGCCAGTGCTCTGGCAACTTCATGGGATTCAACTGT c.300
P S V F Y N R T C Q C S G N F M G F N C p.100
. . . . . . g.5442
GGAAACTGCAAGTTTGGCTTTTGGGGACCAAACTGCACAGAGAGACGACTCTTGGTGAGA c.360
G N C K F G F W G P N C T E R R L L V R p.120
. . . . . . g.5502
AGAAACATCTTCGATTTGAGTGCCCCAGAGAAGGACAAATTTTTTGCCTACCTCACTTTA c.420
R N I F D L S A P E K D K F F A Y L T L p.140
. . . . . . g.5562
GCAAAGCATACCATCAGCTCAGACTATGTCATCCCCATAGGGACCTATGGCCAAATGAAA c.480
A K H T I S S D Y V I P I G T Y G Q M K p.160
. . . . . . g.5622
AATGGATCAACACCCATGTTTAACGACATCAATATTTATGACCTCTTTGTCTGGATGCAT c.540
N G S T P M F N D I N I Y D L F V W M H p.180
. . . . . . g.5682
TATTATGTGTCAATGGATGCACTGCTTGGGGGATCTGAAATCTGGAGAGACATTGATTTT c.600
Y Y V S M D A L L G G S E I W R D I D F p.200
. . . . . . g.5742
GCCCATGAAGCACCAGCTTTTCTGCCTTGGCATAGACTCTTCTTGTTGCGGTGGGAACAA c.660
A H E A P A F L P W H R L F L L R W E Q p.220
. . . . . . g.5802
GAAATCCAGAAGCTGACAGGAGATGAAAACTTCACTATTCCATATTGGGACTGGCGGGAT c.720
E I Q K L T G D E N F T I P Y W D W R D p.240
. . . . . . g.5862
GCAGAAAAGTGTGACATTTGCACAGATGAGTACATGGGAGGTCAGCACCCCACAAATCCT c.780
A E K C D I C T D E Y M G G Q H P T N P p.260
. . . | 02 . . g.18351
AACTTACTCAGCCCAGCATCATTCTTCTCCTCTTGGCAG | ATTGTCTGTAGCCGATTGGAG c.840
N L L S P A S F F S S W Q | I V C S R L E p.280
. . . . . . g.18411
GAGTACAACAGCCATCAGTCTTTATGCAATGGAACGCCCGAGGGACCTTTACGGCGTAAT c.900
E Y N S H Q S L C N G T P E G P L R R N p.300
. . . . . . g.18471
CCTGGAAACCATGACAAATCCAGAACCCCAAGGCTCCCCTCTTCAGCTGATGTAGAATTT c.960
P G N H D K S R T P R L P S S A D V E F p.320
. . . . . . g.18531
TGCCTGAGTTTGACCCAATATGAATCTGGTTCCATGGATAAAGCTGCCAATTTCAGCTTT c.1020
C L S L T Q Y E S G S M D K A A N F S F p.340
. | 03 . . . . . g.54995
AGAAATACACTGGAAG | GATTTGCTAGTCCACTTACTGGGATAGCGGATGCCTCTCAAAGC c.1080
R N T L E G | F A S P L T G I A D A S Q S p.360
. . . . . . g.55055
AGCATGCACAATGCCTTGCACATCTATATGAATGGAACAATGTCCCAGGTACAGGGATCT c.1140
S M H N A L H I Y M N G T M S Q V Q G S p.380
. . . . | 04 . . g.111917
GCCAACGATCCTATCTTCCTTCTTCACCATGCATTTGTTGACAG | TATTTTTGAGCAGTGG c.1200
A N D P I F L L H H A F V D S | I F E Q W p.400
. . . . . . g.111977
CTCCGAAGGCACCGTCCTCTTCAAGAAGTTTATCCAGAAGCCAATGCACCCATTGGACAT c.1260
L R R H R P L Q E V Y P E A N A P I G H p.420
. . . . . . g.112037
AACCGGGAATCCTACATGGTTCCTTTTATACCACTGTACAGAAATGGTGATTTCTTTATT c.1320
N R E S Y M V P F I P L Y R N G D F F I p.440
. . . . | 05 . . g.122285
TCATCCAAAGATCTGGGCTATGACTATAGCTATCTACAAGATTCAG | ACCCAGACTCTTTT c.1380
S S K D L G Y D Y S Y L Q D S D | P D S F p.460
. . . . . . g.122345
CAAGACTACATTAAGTCCTATTTGGAACAAGCGAGTCGGATCTGGTCATGGCTCCTTGGG c.1440
Q D Y I K S Y L E Q A S R I W S W L L G p.480
. . . . . . g.122405
GCGGCGATGGTAGGGGCCGTCCTCACTGCCCTGCTGGCAGGGCTTGTGAGCTTGCTGTGT c.1500
A A M V G A V L T A L L A G L V S L L C p.500
. . . . . . g.122465
CGTCACAAGAGAAAGCAGCTTCCTGAAGAAAAGCAGCCACTCCTCATGGAGAAAGAGGAT c.1560
R H K R K Q L P E E K Q P L L M E K E D p.520
. . . g.122495
TACCACAGCTTGTATCAGAGCCATTTATAA c.1590
Y H S L Y Q S H L X p.529
. . . . . . g.122555
aaggcttaggcaatagagtagggccaaaaagcctgacctcactctaactcaaagtaatgt c.*60
. . . . . . g.122615
ccaggttcccagagaatatctgctggtatttttctgtaaagaccatttgcaaaattgtaa c.*120
. . . . . . g.122675
cctaatacaaagtgtagccttcttccaactcaggtagaacacacctgtctttgtcttgct c.*180
. . . . . . g.122735
gttttcactcagcccttttaacattttcccctaagcccatatgtctaaggaaaggatgct c.*240
. . . . . . g.122795
atttggtaatgaggaactgttatttgtatgtgaattaaagtgctcttattttaaaaaatt c.*300
. . . . . . g.122855
gaaataattttgatttttgccttctgattatttaaagatctatatatgttttattggccc c.*360
. . . g.122888
cttctttattttaataaaacagtgagaaatcta c.*393
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 10c
©2004-2014 Leiden University Medical Center