(used for variant description)
(last modified July 1, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_000212.2 in the ITGB3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering ITGB3 transcript NM_000212.2.
(upstream sequence)
. . g.5020
cgccgcgggaggcggacgag c.-1
. . . . . . g.5080
ATGCGAGCGCGGCCGCGGCCCCGGCCGCTCTGGGCGACTGTGCTGGCGCTGGGGGCGCTG c.60
M R A R P R P R P L W A T V L A L G A L p.20
. | 02 . . . . g.25618
GCGGGCGTTGGCGTAGGAG | GGCCCAACATCTGTACCACGCGAGGTGTGAGCTCCTGCCAG c.120
A G V G V G G | P N I C T T R G V S S C Q p.40
. . . . | 03 . . g.34527
CAGTGCCTGGCTGTGAGCCCCATGTGTGCCTGGTGCTCTGATGAG | GCCCTGCCTCTGGGC c.180
Q C L A V S P M C A W C S D E | A L P L G p.60
. . . . . . g.34587
TCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATC c.240
S P R C D L K E N L L K D N C A P E S I p.80
. . . . . . g.34647
GAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCT c.300
E F P V S E A R V L E D R P L S D K G S p.100
. . . . . . g.34707
GGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCA c.360
G D S S Q V T Q V S P Q R I A L R L R P p.120
| 04 . . . . . . g.35660
G | ATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATC c.420
D | D S K N F S I Q V R Q V E D Y P V D I p.140
. . . . . . g.35720
TACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTG c.480
Y Y L M D L S Y S M K D D L W S I Q N L p.160
. . . . . . g.35780
GGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGG c.540
G T K L A T Q M R K L T S N L R I G F G p.180
. . . . . . g.35840
GCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAA c.600
A F V D K P V S P Y M Y I S P P E A L E p.200
. | 05 . . . . . g.37464
AACCCCTGCTATGA | TATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTG c.660
N P C Y D | M K T T C L P M F G Y K H V L p.220
. . . . . . g.37524
ACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGG c.720
T L T D Q V T R F N E E V K K Q S V S R p.240
. . . . . | 06. g.38231
AACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGAT | GAA c.780
N R D A P E G G F D A I M Q A T V C D | E p.260
. . . . . . g.38291
AAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACT c.840
K I G W R N D A S H L L V F T T D A K T p.280
. . . . . . g.38351
CATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCAT c.900
H I A L D G R L A G I V Q P N D G Q C H p.300
. . . | 07 . . g.40860
GTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATG | GATTATCCCTCTTTGGGGCTG c.960
V G S D N H Y S A S T T M | D Y P S L G L p.320
. . . . . . g.40920
ATGACTGAGAAGCTATCCCAGAAAAACATCAATTTGATCTTTGCAGTGACTGAAAATGTA c.1020
M T E K L S Q K N I N L I F A V T E N V p.340
. | 08 . . . . . g.41388
GTCAATCTCTATCAG | AACTATAGTGAGCTCATCCCAGGGACCACAGTTGGGGTTCTGTCC c.1080
V N L Y Q | N Y S E L I P G T T V G V L S p.360
. . . . | 09 . . g.42127
ATGGATTCCAGCAATGTCCTCCAGCTCATTGTTGATGCTTATGGG | AAAATCCGTTCTAAA c.1140
M D S S N V L Q L I V D A Y G | K I R S K p.380
. . . . . . g.42187
GTAGAGCTGGAAGTGCGTGACCTCCCTGAAGAGTTGTCTCTATCCTTCAATGCCACCTGC c.1200
V E L E V R D L P E E L S L S F N A T C p.400
. . . . . . g.42247
CTCAACAATGAGGTCATCCCTGGCCTCAAGTCTTGTATGGGACTCAAGATTGGAGACACG c.1260
L N N E V I P G L K S C M G L K I G D T p.420
| 10 . . . . . . g.43357
| GTGAGCTTCAGCATTGAGGCCAAGGTGCGAGGCTGTCCCCAGGAGAAGGAGAAGTCCTTT c.1320
| V S F S I E A K V R G C P Q E K E K S F p.440
. . . . . . g.43417
ACCATAAAGCCCGTGGGCTTCAAGGACAGCCTGATCGTCCAGGTCACCTTTGATTGTGAC c.1380
T I K P V G F K D S L I V Q V T F D C D p.460
. . . . . . g.43477
TGTGCCTGCCAGGCCCAAGCTGAACCTAATAGCCATCGCTGCAACAATGGCAATGGGACC c.1440
C A C Q A Q A E P N S H R C N N G N G T p.480
. . . . . . g.43537
TTTGAGTGTGGGGTATGCCGTTGTGGGCCTGGCTGGCTGGGATCCCAGTGTGAGTGCTCA c.1500
F E C G V C R C G P G W L G S Q C E C S p.500
. . . . . . g.43597
GAGGAGGACTATCGCCCTTCCCAGCAGGACGAATGCAGCCCCCGGGAGGGTCAGCCCGTC c.1560
E E D Y R P S Q Q D E C S P R E G Q P V p.520
. . . . . . g.43657
TGCAGCCAGCGGGGCGAGTGCCTCTGTGGTCAATGTGTCTGCCACAGCAGTGACTTTGGC c.1620
C S Q R G E C L C G Q C V C H S S D F G p.540
. . . . . . g.43717
AAGATCACGGGCAAGTACTGCGAGTGTGACGACTTCTCCTGTGTCCGCTACAAGGGGGAG c.1680
K I T G K Y C E C D D F S C V R Y K G E p.560
. | 11 . . . . . g.50516
ATGTGCTCAG | GCCATGGCCAGTGCAGCTGTGGGGACTGCCTGTGTGACTCCGACTGGACC c.1740
M C S G | H G Q C S C G D C L C D S D W T p.580
. . . . . . g.50576
GGCTACTACTGCAACTGTACCACGCGTACTGACACCTGCATGTCCAGCAATGGGCTGCTG c.1800
G Y Y C N C T T R T D T C M S S N G L L p.600
. . . . . . g.50636
TGCAGCGGCCGCGGCAAGTGTGAATGTGGCAGCTGTGTCTGTATCCAGCCGGGCTCCTAT c.1860
C S G R G K C E C G S C V C I Q P G S Y p.620
. . . . . | 12 . g.51643
GGGGACACCTGTGAGAAGTGCCCCACCTGCCCAGATGCCTGCACCTTTAAGAA | AGAATGT c.1920
G D T C E K C P T C P D A C T F K K | E C p.640
. . . . . . g.51703
GTGGAGTGTAAGAAGTTTGACCGGGGAGCCCTACATGACGAAAATACCTGCAACCGTTAC c.1980
V E C K K F D R G A L H D E N T C N R Y p.660
. . . | 13 . . . g.53905
TGCCGTGACGAGATTGAGTCAGTGAAAGAGCTTA | AGGACACTGGCAAGGATGCAGTGAAT c.2040
C R D E I E S V K E L K | D T G K D A V N p.680
. . . . . . g.53965
TGTACCTATAAGAATGAGGATGACTGTGTCGTCAGATTCCAGTACTATGAAGATTCTAGT c.2100
C T Y K N E D D C V V R F Q Y Y E D S S p.700
. . . | 14 . . . g.58655
GGAAAGTCCATCCTGTATGTGGTAGAAGAGCCAG | AGTGTCCCAAGGGCCCTGACATCCTG c.2160
G K S I L Y V V E E P E | C P K G P D I L p.720
. . . . . . g.58715
GTGGTCCTGCTCTCAGTGATGGGGGCCATTCTGCTCATTGGCCTTGCCGCCCTGCTCATC c.2220
V V L L S V M G A I L L I G L A A L L I p.740
. . . . . . g.58775
TGGAAACTCCTCATCACCATCCACGACCGAAAAGAATTCGCTAAATTTGAGGAAGAACGC c.2280
W K L L I T I H D R K E F A K F E E E R p.760
. . | 15 . . . . g.61336
GCCAGAGCAAAATGGGACACA | GCCAACAACCCACTGTATAAAGAGGCCACGTCTACCTTC c.2340
A R A K W D T | A N N P L Y K E A T S T F p.780
. . g.61363
ACCAATATCACGTACCGGGGCACTTAA c.2367
T N I T Y R G T X p.788
. . . . . . g.61423
tgataagcagtcatcctcagatcattatcagcctgtgccacgattgcaggagtccctgcc c.*60
. . . . . . g.61483
atcatgtttacagaggacagtatttgtggggagggatttggggctcagagtggggtaggt c.*120
. . . . . . g.61543
tgggagaatgtcagtatgtggaagtgtgggtctgtgtgtgtgtatgtgggggtctgtgtg c.*180
. . . . . . g.61603
tttatgtgtgtgtgttgtgtgtgggagtgtgtaatttaaaattgtgatgtgtcctgataa c.*240
. . . . . . g.61663
gctgagctccttagcctttgtcccagaatgcctcctgcagggattcttcctgcttagctt c.*300
. . . . . . g.61723
gagggtgactatggagctgagcaggtgttcttcattacctcagtgagaagccagctttcc c.*360
. . . . . . g.61783
tcatcaggccattgtccctgaagagaagggcagggctgaggcctctcattccagaggaag c.*420
. . . . . . g.61843
ggacaccaagccttggctctaccctgagttcataaatttatggttctcaggcctgactct c.*480
. . . . . . g.61903
cagcagctatggtaggaactgctgggcttggcagcccgggtcatctgtacctctgcctcc c.*540
. . . . . . g.61963
tttcccctccctcaggccgaaggaggagtcagggagagctgaactattagagctgcctgt c.*600
. . . . . . g.62023
gccttttgccatcccctcaacccagctatggttctctcgcaagggaagtccttgcaagct c.*660
. . . . . . g.62083
aattctttgacctgttgggagtgaggatgtctgggccactcaggggtcattcatggcctg c.*720
. . . . . . g.62143
ggggatgtaccagcatctcccagttcataatcacaacccttcagatttgccttattggca c.*780
. . . . . . g.62203
gctctactctggaggtttgtttagaagaagtgtgtcacccttaggccagcaccatctctt c.*840
. . . . . . g.62263
tacctcctaattccacaccctcactgctgtagacatttgctatgagctggggatgtctct c.*900
. . . . . . g.62323
catgaccaaatgcttttcctcaaagggagagagtgctattgtagagccagaggtctggcc c.*960
. . . . . . g.62383
ctatgcttccggcctcctgtccctcatccatagcacctccacatacctggccctgtgcct c.*1020
. . . . . . g.62443
tggtgtgctgtatccatccatggggctgattgtatttaccttctacctcttggctgcctt c.*1080
. . . . . . g.62503
gtgaaggaattattcccatgagttggctgggaataagtgccaggatggaatgatgggtca c.*1140
. . . . . . g.62563
gttgtatcagcacgtgtggcctgttcttctatgggttggacaacctcattttaactcagt c.*1200
. . . . . . g.62623
ctttaatctgagaggccacagtgcaattttattttatttttctcatgatgaggttttctt c.*1260
. . . . . . g.62683
aacttaaaagaacatgtatataaacatgcttgcattatatttgtaaatttatgtgatggc c.*1320
. . . . . . g.62743
aaagaaggagagcataggaaaccacacagacttgggcagggtacagacactcccacttgg c.*1380
. . . . . . g.62803
catcattcacagcaagtcactggccagtggctggatctgtgaggggctctctcatgatag c.*1440
. . . . . . g.62863
aaggctatggggatagatgtgtggacacattggacctttcctgaggaagagggactgttc c.*1500
. . . . . . g.62923
ttttgtcccagaaaagcagtggctccattggtgttgacatacatccaacattaaaagcca c.*1560
. . . . . . g.62983
cccccaaatgcccaagaaaaaaagaaagacttatcaacatttgttccatgagcagaaaac c.*1620
. . . . . . g.63043
tggagctctggcctcagtgttacagctaaataatctttaattaaggcaagtcactttctt c.*1680
. . . . . . g.63103
cttcttaaagctgttttctagtttgagaaatgatgggattttagcagccagtcttgaagg c.*1740
. . . . . . g.63163
tctctttcagtatcaacattctaagatgctgggacttactgtgtcatcaaatgtgcggtt c.*1800
. . . . . . g.63223
aagattctctgggatattgatactgtttgtgtttttagttgggagatctgagagacctgg c.*1860
. . . . . . g.63283
ctttggcaagagcagatgtcattccatatcacctttctcaatgaaagtctcattctatcc c.*1920
. . . . . . g.63343
tctctccaaacccgttttccaacatttgttaatagttacgtctctcctgatgtagcactt c.*1980
. . . . . . g.63403
aagcttcatttagttattatttctttcttcactttgcacacatttgcatccacatattag c.*2040
. . . . . . g.63463
ggaagaggaatccataagtagctgaaatatctattctgtattattgtgttaacattgaga c.*2100
. . . . . . g.63523
ataagccttggaattagatatggggcaatgactgagccctgtctcacccatggattactc c.*2160
. . . . . . g.63583
cttactgtagggaatggcagtatggtagagggataaatagggggcggggagggatagtca c.*2220
. . . . . . g.63643
tggatccaagaagtccttagaaatagtggcagggaacaggtgtggaagctcatgcctgta c.*2280
. . . . . . g.63703
attataaccttcagctactaagacaggtgtggtggctcacgcctgtgattataatcttca c.*2340
. . . . . . g.63763
gttactaagacagagtccatgagagtgttaatgggacattttctttagataagatgtttt c.*2400
. . . . . . g.63823
atatgaagaaactgtatcaaagggggaagaaaatgtatttaacaggtgaatcaaatcagg c.*2460
. . . . g.63870
aatcttgtctgagctactggaatgaagttcacaggtcttgaagacca c.*2507
(downstream sequence)
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