(used for variant description)
(last modified March 3, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_021930.4 in the RINT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_051951.1, covering RINT1 transcript NM_021930.4.
(upstream sequence)
. . . . . g.5051
ggccgttccgacctccggtcaggagggggaggaacagagcacggccggcgg c.-181
. . . . . . g.5111
ctgcacgggcagggcctctctgggctgagaggaagaaaccagtgagacatcgagaggaag c.-121
. . . . . . g.5171
tcgctgtggcactcagtcctacggcctccgaggctgggtagtgagtgtgtcgctggcctt c.-61
. . . . . . g.5231
agccagactccacaggccacgctggctgcgaatggagccgaggactcgcgcggaggcgag c.-1
. . . . | 02 . . g.5757
ATGCTACCAGCCGGCGAGATCGGCGCCTCTCCTGCAGCCCCG | TGCTGCTCTGAAAGTGGT c.60
M L P A G E I G A S P A A P | C C S E S G p.20
. . | 03 . . . g.9512
GACGAAAGGAAGAACCTCGAGGAGAAAA | GTGACATAAATGTTACAGTTCTTATTGGAAGT c.120
D E R K N L E E K S | D I N V T V L I G S p.40
. . . . . . g.9572
AAACAAGTCAGTGAAGGTACAGATAATGGTGATCTCCCTTCTTATGTGTCTGCATTCATA c.180
K Q V S E G T D N G D L P S Y V S A F I p.60
. . . . . . g.9632
GAAAAGGAAGTTGGAAATGACCTTAAATCTTTAAAGAAACTTGATAAACTCATAGAACAG c.240
E K E V G N D L K S L K K L D K L I E Q p.80
. . . | 04 . . . g.15350
AGGACAGTAAGTAAAATGCAGTTAGAAGAACAG | GTACTTACAATTTCATCAGAAATTCCT c.300
R T V S K M Q L E E Q | V L T I S S E I P p.100
. . . . . . g.15410
AAAAGAATTCGAAGTGCCTTAAAAAATGCAGAAGAATCAAAGCAATTTCTTAATCAGTTT c.360
K R I R S A L K N A E E S K Q F L N Q F p.120
. . . . . . g.15470
CTGGAGCAGGAAACTCATCTCTTCAGCGCCATTAACAGCCATTTGCTGACTGCGCAACCT c.420
L E Q E T H L F S A I N S H L L T A Q P p.140
. . . . . . g.15530
TGGATGGACGATCTTGGAACCATGATTAGCCAGATTGAAGAGATCGAACGTCATCTTGCT c.480
W M D D L G T M I S Q I E E I E R H L A p.160
. . . | 05 . . . g.19850
TACCTTAAATGGATTTCACAAATTGAAGAACTAAG | TGATAACATTCAGCAATATCTGATG c.540
Y L K W I S Q I E E L S | D N I Q Q Y L M p.180
. . . . . . g.19910
ACCAATAATGTACCGGAGGCAGCCTCCACTCTAGTGTCTATGGCAGAACTTGACATTAAA c.600
T N N V P E A A S T L V S M A E L D I K p.200
. . . . . . g.19970
CTTCAGGAATCATCTTGTACTCATCTTCTTGGTTTCATGAGAGCCACAGTTAAATTCTGG c.660
L Q E S S C T H L L G F M R A T V K F W p.220
. . | 06 . . . g.20130
CATAAAATTCTCAAGGACAAGCTTACAAG | TGATTTTGAGGAAATTTTAGCACAGCTTCAT c.720
H K I L K D K L T S | D F E E I L A Q L H p.240
. . . . . . g.20190
TGGCCATTCATCGCACCCCCTCAATCACAAACTGTTGGCTTAAGTCGACCTGCCAGTGCC c.780
W P F I A P P Q S Q T V G L S R P A S A p.260
. . . . . | 07 g.21470
CCGGAGATATACAGTTACCTGGAGACACTGTTTTGTCAGCTTTTGAAACTACAAACCTC | A c.840
P E I Y S Y L E T L F C Q L L K L Q T S | p.280
. . . . . . g.21530
GATGAATTACTTACTGAGCCAAAGCAACTCCCAGAAAAATACTCTCTTCCTGCCTCCCCT c.900
D E L L T E P K Q L P E K Y S L P A S P p.300
. . . . . . g.21590
TCTGTCATCCTGCCCATCCAGGTTATGCTGACTCCTCTTCAGAAGAGGTTCAGGTATCAC c.960
S V I L P I Q V M L T P L Q K R F R Y H p.320
. . . | 08 . . . g.22994
TTCAGAGGGAACCGGCAGACTAATGTGTTAAGCAAG | CCAGAATGGTACTTGGCTCAAGTA c.1020
F R G N R Q T N V L S K | P E W Y L A Q V p.340
. . . . . . g.23054
CTTATGTGGATTGGAAACCATACTGAATTTCTGGATGAGAAGATTCAGCCAATATTAGAC c.1080
L M W I G N H T E F L D E K I Q P I L D p.360
. . | 09. . . . g.23209
AAAGTAGGCTCTTTGGTAAACGCAAGG | CTTGAATTTTCTCGGGGCCTTATGATGCTGGTT c.1140
K V G S L V N A R | L E F S R G L M M L V p.380
. . . . . . g.23269
CTTGAGAAGTTAGCCACTGATATTCCTTGTCTGCTATATGATGACAATCTCTTCTGTCAT c.1200
L E K L A T D I P C L L Y D D N L F C H p.400
. . . . . . g.23329
TTGGTGGATGAAGTACTCTTGTTTGAAAGGGAGCTACACAGTGTTCATGGCTATCCTGGC c.1260
L V D E V L L F E R E L H S V H G Y P G p.420
. . . . . . g.23389
ACTTTTGCTAGTTGTATGCATATTCTATCAGAGGAAACCTGTTTTCAGAGATGGTTGACG c.1320
T F A S C M H I L S E E T C F Q R W L T p.440
. | 10 . . . . . g.24532
GTGGAGAGAAAAT | TTGCTCTTCAAAAAATGGACTCAATGCTTTCCTCAGAAGCTGCCTGG c.1380
V E R K F | A L Q K M D S M L S S E A A W p.460
. . . . . . g.24592
GTATCGCAATATAAGGATATCACTGACGTGGATGAAATGAAAGTTCCAGATTGTGCAGAA c.1440
V S Q Y K D I T D V D E M K V P D C A E p.480
. . . | 11 . . . g.27972
ACTTTTATGACTCTACTCTTGGTTATAACTG | ACAGGTATAAAAATCTTCCCACAGCTTCC c.1500
T F M T L L L V I T D | R Y K N L P T A S p.500
. . . . . . g.28032
CGAAAGCTTCAGTTCCTGGAGTTACAGAAGGACTTAGTAGATGATTTTAGGATACGATTA c.1560
R K L Q F L E L Q K D L V D D F R I R L p.520
. . . . . . g.28092
ACACAAGTGATGAAAGAAGAGACTAGAGCTTCCCTTGGCTTTCGATACTGTGCAATTCTT c.1620
T Q V M K E E T R A S L G F R Y C A I L p.540
. . . . . | 12 . g.36657
AATGCTGTGAACTACATCTCAACAGTACTAGCAGATTGGGCTGACAATGTT | TTCTTTCTA c.1680
N A V N Y I S T V L A D W A D N V | F F L p.560
. . . . . . g.36717
CAACTTCAACAGGCTGCACTGGAGGTGTTTGCAGAGAATAATACTCTGAGTAAATTGCAG c.1740
Q L Q Q A A L E V F A E N N T L S K L Q p.580
. . . . . . g.36777
CTAGGACAGCTAGCCTCTATGGAGAGCTCTGTCTTTGATGACATGATTAACCTCTTAGAA c.1800
L G Q L A S M E S S V F D D M I N L L E p.600
. . . . . . g.36837
CGTTTAAAGCATGATATGTTGACCCGTCAAGTAGACCACGTTTTTAGAGAAGTTAAAGAT c.1860
R L K H D M L T R Q V D H V F R E V K D p.620
. . | 13 . . . . g.38226
GCTGCAAAATTGTATAAAAAAGAAAG | ATGGTTGTCCTTGCCATCTCAGTCAGAGCAGGCA c.1920
A A K L Y K K E R | W L S L P S Q S E Q A p.640
. . . . . . g.38286
GTGATGTCCCTGTCCAGTTCGGCTTGCCCGTTGCTGCTGACGTTACGAGACCATTTACTT c.1980
V M S L S S S A C P L L L T L R D H L L p.660
. . . . . . g.38346
CAGTTGGAGCAGCAGCTTTGTTTCTCCTTATTTAAAATTTTCTGGCAAATGCTTGTAGAG c.2040
Q L E Q Q L C F S L F K I F W Q M L V E p.680
. . | 14. . . . g.38478
AAGCTGGATGTATACATCTACCAAGAA | ATAATTCTTGCTAATCACTTCAATGAAGGAGGA c.2100
K L D V Y I Y Q E | I I L A N H F N E G G p.700
. . . . . . g.38538
GCAGCCCAGCTGCAGTTTGATATGACTCGGAATCTTTTCCCTTTGTTTTCTCACTATTGC c.2160
A A Q L Q F D M T R N L F P L F S H Y C p.720
. . | 15 . . . . g.40068
AAGAGACCAGAAAATTATTTTAAACA | TATAAAAGAAGCCTGTATTGTTTTGAATTTGAAC c.2220
K R P E N Y F K H | I K E A C I V L N L N p.740
. . . . . . g.40128
GTCGGTTCTGCACTACTGCTGAAAGATGTACTGCAGTCAGCTTCAGGGCAGCTTCCTGCC c.2280
V G S A L L L K D V L Q S A S G Q L P A p.760
. . . . . . g.40188
ACAGCAGCATTAAATGAAGTTGGAATTTACAAACTGGCTCAACAAGATGTTGAGATTCTA c.2340
T A A L N E V G I Y K L A Q Q D V E I L p.780
. . . g.40227
CTTAATTTGAGGACAAATTGGCCTAATACTGGAAAATAA c.2379
L N L R T N W P N T G K X p.792
. . . . . . g.40287
tgtctttcagaaaaaggtttctttggtttttgtttctaagaaagaggaagccaattggat c.*60
. . . . . . g.40347
ttcaagttatatgatgaaattctgaattaatgaaactggaaaactttatagaattactta c.*120
. . . . . . g.40407
ttatcttggatttatggtgttattaaaatgctgaccatatttccttcatcctcttgttcc c.*180
. . . . . . g.40467
taaggaaacaaaaacagaaaacgaaacaatgaaaactcaattctatttacaagtataaat c.*240
. . . . . . g.40527
gctgagtatgtctgttgaagacgagcagagatattaaattataaccaactttcaatttcc c.*300
. . . . . . g.40587
tgtgctaattaagggaaattctgttgtggataatcaaacatagccaataaatttttttaa c.*360
g.40593
aactcc c.*366
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 21c
©2004-2019 Leiden University Medical Center