(used for variant description)
(last modified November 9, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000213.3 in the ITGB4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007372.1, covering ITGB4 transcript NM_000213.3.
(upstream sequence)
g.5007
gcgctgc c.-181
. . . . . . g.5067
ccgcctcgtccccacccccccaacccccgcgcccgccctcggacagtccctgctcgcccg c.-121
. . . . . . g.5127
cgcgctgcagccccatctcctagcggcagcccaggcgcggagggagcgagtccgccccga c.-61
. . . . . | 02 g.8268
ggtaggtccaggacgggcgcacagcagcagccgaggctggccgggagagg | gaggaagagg c.-1
. . . . . . g.8328
ATGGCAGGGCCACGCCCCAGCCCATGGGCCAGGCTGCTCCTGGCAGCCTTGATCAGCGTC c.60
M A G P R P S P W A R L L L A A L I S V p.20
. | 03 . . . . g.10800
AGCCTCTCTGGGACCTTGG | CAAACCGCTGCAAGAAGGCCCCAGTGAAGAGCTGCACGGAG c.120
S L S G T L A | N R C K K A P V K S C T E p.40
. . . . | 04 . . g.10987
TGTGTCCGTGTGGATAAGGACTGCGCCTACTGCACAGACGAG | ATGTTCAGGGACCGGCGC c.180
C V R V D K D C A Y C T D E | M F R D R R p.60
. . . . . . g.11047
TGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATG c.240
C N T Q A E L L A A G C Q R E S I V V M p.80
. . | 05 . . . . g.11252
GAGAGCAGCTTCCAAATCACAGAG | GAGACCCAGATTGACACCACCCTGCGGCGCAGCCAG c.300
E S S F Q I T E | E T Q I D T T L R R S Q p.100
. . . . . . g.11312
ATGTCCCCCCAAGGCCTGCGGGTCCGTCTGCGGCCCGGTGAGGAGCGGCATTTTGAGCTG c.360
M S P Q G L R V R L R P G E E R H F E L p.120
. . . . . . g.11372
GAGGTGTTTGAGCCACTGGAGAGCCCCGTGGACCTGTACATCCTCATGGACTTCTCCAAC c.420
E V F E P L E S P V D L Y I L M D F S N p.140
. . . . | 06 . g.11953
TCCATGTCCGATGATCTGGACAACCTCAAGAAGATGGGGCAGAACCTGG | CTCGGGTCCTG c.480
S M S D D L D N L K K M G Q N L A | R V L p.160
. . . . . . g.12013
AGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTC c.540
S Q L T S D Y T I G F G K F V D K V S V p.180
. . | 07 . . . . g.12864
CCGCAGACGGACATGAGGCCTGAGAA | GCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCC c.600
P Q T D M R P E K | L K E P W P N S D P P p.200
. . . . . . g.12924
TTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTG c.660
F S F K N V I S L T E D V D E F R N K L p.220
. . . . . . g.12984
CAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTG c.720
Q G E R I S G N L D A P E G G F D A I L p.240
. | 08 . . . . g.13848
CAGACAGCTGTGTGCACG | AGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTC c.780
Q T A V C T | R D I G W R P D S T H L L V p.260
. . . . . . g.13908
TTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATC c.840
F S T E S A F H Y E A D G A N V L A G I p.280
. . . . . . g.13968
ATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGG c.900
M S R N D E R C H L D T T G T Y T Q Y R p.300
. . . . . . g.14028
ACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATC c.960
T Q D Y P S V P T L V R L L A K H N I I p.320
. . . . | 09 . . g.14458
CCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAG | AAGCTTCACACCTATTTC c.1020
P I F A V T N Y S Y S Y Y E | K L H T Y F p.340
. . . . . . g.14518
CCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAG c.1080
P V S S L G V L Q E D S S N I V E L L E p.360
. | 10 . . . . . g.14859
GAGGCCTTCAAT | CGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGC c.1140
E A F N | R I R S N L D I R A L D S P R G p.380
. . . . . . g.14919
CTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATC c.1200
L R T E V T S K M F Q K T R T G S F H I p.400
. | 11 . . . . . g.15422
CGGCGGGGGGAAGTG | GGTATATACCAGGTGCAGCTGCGGGCCCTTGAGCACGTGGATGGG c.1260
R R G E V | G I Y Q V Q L R A L E H V D G p.420
. . . . . . g.15482
ACGCACGTGTGCCAGCTGCCGGAGGACCAGAAGGGCAACATCCATCTGAAACCTTCCTTC c.1320
T H V C Q L P E D Q K G N I H L K P S F p.440
. . . . . | 12. g.15731
TCCGACGGCCTCAAGATGGACGCGGGCATCATCTGTGATGTGTGCACCTGCGAGCTG | CAA c.1380
S D G L K M D A G I I C D V C T C E L | Q p.460
. . . . . . g.15791
AAAGAGGTGCGGTCAGCTCGCTGCAGCTTCAACGGAGACTTCGTGTGCGGACAGTGTGTG c.1440
K E V R S A R C S F N G D F V C G Q C V p.480
. | 13 . . . . . g.17101
TGCAGCGAGGGCTG | GAGTGGCCAGACCTGCAACTGCTCCACCGGCTCTCTGAGTGACATT c.1500
C S E G W | S G Q T C N C S T G S L S D I p.500
. . . . . . g.17161
CAGCCCTGCCTGCGGGAGGGCGAGGACAAGCCGTGCTCCGGCCGTGGGGAGTGCCAGTGC c.1560
Q P C L R E G E D K P C S G R G E C Q C p.520
. . . . . . g.17221
GGGCACTGTGTGTGCTACGGCGAAGGCCGCTACGAGGGTCAGTTCTGCGAGTATGACAAC c.1620
G H C V C Y G E G R Y E G Q F C E Y D N p.540
. . . | 14. . . g.19639
TTCCAGTGTCCCCGCACTTCCGGGTTCCTCTGCAATG | ACCGAGGACGCTGCTCCATGGGC c.1680
F Q C P R T S G F L C N D | R G R C S M G p.560
. . . . . . g.19699
CAGTGTGTGTGTGAGCCTGGTTGGACAGGCCCAAGCTGTGACTGTCCCCTCAGCAATGCC c.1740
Q C V C E P G W T G P S C D C P L S N A p.580
. . | 15 . . . . g.19892
ACCTGCATCGACAGCAATGGG | GGCATCTGTAATGGACGTGGCCACTGTGAGTGTGGCCGC c.1800
T C I D S N G | G I C N G R G H C E C G R p.600
. . . . . . g.19952
TGCCACTGCCACCAGCAGTCGCTCTACACGGACACCATCTGCGAGATCAACTACTCGGCG c.1860
C H C H Q Q S L Y T D T I C E I N Y S A p.620
| 16 . . . . . . g.20190
| ATCCACCCGGGCCTCTGCGAGGACCTACGCTCCTGCGTGCAGTGCCAGGCGTGGGGCACC c.1920
| I H P G L C E D L R S C V Q C Q A W G T p.640
. . . . . . g.20250
GGCGAGAAGAAGGGGCGCACGTGTGAGGAATGCAACTTCAAGGTCAAGATGGTGGACGAG c.1980
G E K K G R T C E E C N F K V K M V D E p.660
. | 17 . . . . . g.20937
CTTAAGAGAG | CCGAGGAGGTGGTGGTGCGCTGCTCCTTCCGGGACGAGGATGACGACTGC c.2040
L K R A | E E V V V R C S F R D E D D D C p.680
. . . . . . g.20997
ACCTACAGCTACACCATGGAAGGTGACGGCGCCCCTGGGCCCAACAGCACTGTCCTGGTG c.2100
T Y S Y T M E G D G A P G P N S T V L V p.700
. | 18 . . . . . g.21150
CACAAGAAGAAGG | ACTGCCCTCCGGGCTCCTTCTGGTGGCTCATCCCCCTGCTCCTCCTC c.2160
H K K K D | C P P G S F W W L I P L L L L p.720
. . . . . . g.21210
CTCCTGCCGCTCCTGGCCCTGCTACTGCTGCTATGCTGGAAGTACTGTGCCTGCTGCAAG c.2220
L L P L L A L L L L L C W K Y C A C C K p.740
| 19 . . . | 20 . . . g.23471
| GCCTGCCTGGCACTTCTCCCGTGCTGCAACCGAG | GTCACATGGTGGGCTTTAAGGAAGAC c.2280
| A C L A L L P C C N R G | H M V G F K E D p.760
. . . . . . g.23531
CACTACATGCTGCGGGAGAACCTGATGGCCTCTGACCACTTGGACACGCCCATGCTGCGC c.2340
H Y M L R E N L M A S D H L D T P M L R p.780
. . . . . . g.23591
AGCGGGAACCTCAAGGGCCGTGACGTGGTCCGCTGGAAGGTCACCAACAACATGCAGCGG c.2400
S G N L K G R D V V R W K V T N N M Q R p.800
. . . . | 21 . . g.23937
CCTGGCTTTGCCACTCATGCCGCCAGCATCAACCCCACAGAGCTGG | TGCCCTACGGGCTG c.2460
P G F A T H A A S I N P T E L V | P Y G L p.820
. . . . . . g.23997
TCCTTGCGCCTGGCCCGCCTTTGCACCGAGAACCTGCTGAAGCCTGACACTCGGGAGTGC c.2520
S L R L A R L C T E N L L K P D T R E C p.840
. . . | 22 . . . g.24388
GCCCAGCTGCGCCAGGAGGTGGAGGAGAAC | CTGAACGAGGTCTACAGGCAGATCTCCGGT c.2580
A Q L R Q E V E E N | L N E V Y R Q I S G p.860
. . | 23 . . | 24 . g.25913
GTACACAAGCTCCAGCAGACCAAGTTCCG | GCAGCAGCCCAATGCCGGGAAAAA | GCAAGAC c.2640
V H K L Q Q T K F R | Q Q P N A G K K | Q D p.880
. . . . . . g.25973
CACACCATTGTGGACACAGTGCTGATGGCGCCCCGCTCGGCCAAGCCGGCCCTGCTGAAG c.2700
H T I V D T V L M A P R S A K P A L L K p.900
. . . . . . g.26033
CTTACAGAGAAGCAGGTGGAACAGAGGGCCTTCCACGACCTCAAGGTGGCCCCCGGCTAC c.2760
L T E K Q V E Q R A F H D L K V A P G Y p.920
. . | 25 . . . . g.26185
TACACCCTCACTGCAGACCAGG | ACGCCCGGGGCATGGTGGAGTTCCAGGAGGGCGTGGAG c.2820
Y T L T A D Q D | A R G M V E F Q E G V E p.940
. . . . . . g.26245
CTGGTGGACGTACGGGTGCCCCTCTTTATCCGGCCTGAGGATGACGACGAGAAGCAGCTG c.2880
L V D V R V P L F I R P E D D D E K Q L p.960
. . . . . . g.26305
CTGGTGGAGGCCATCGACGTGCCCGCAGGCACTGCCACCCTCGGCCGCCGCCTGGTAAAC c.2940
L V E A I D V P A G T A T L G R R L V N p.980
. . | 26 . . . . g.27316
ATCACCATCATCAAGGAGCAAG | CCAGAGACGTGGTGTCCTTTGAGCAGCCTGAGTTCTCG c.3000
I T I I K E Q A | R D V V S F E Q P E F S p.1000
. . . . . . g.27376
GTCAGCCGCGGGGACCAGGTGGCCCGCATCCCTGTCATCCGGCGTGTCCTGGACGGCGGG c.3060
V S R G D Q V A R I P V I R R V L D G G p.1020
. . . . . | 27 . g.32415
AAGTCCCAGGTCTCCTACCGCACACAGGATGGCACCGCGCAGGGCAACCGG | GACTACATC c.3120
K S Q V S Y R T Q D G T A Q G N R | D Y I p.1040
. . . . . . g.32475
CCCGTGGAGGGTGAGCTGCTGTTCCAGCCTGGGGAGGCCTGGAAAGAGCTGCAGGTGAAG c.3180
P V E G E L L F Q P G E A W K E L Q V K p.1060
. . . . . . g.32535
CTCCTGGAGCTGCAAGAAGTTGACTCCCTCCTGCGGGGCCGCCAGGTCCGCCGTTTCCAC c.3240
L L E L Q E V D S L L R G R Q V R R F H p.1080
. . . . . . g.32595
GTCCAGCTCAGCAACCCTAAGTTTGGGGCCCACCTGGGCCAGCCCCACTCCACCACCATC c.3300
V Q L S N P K F G A H L G Q P H S T T I p.1100
. | 28 . . . . . g.33720
ATCATCAGGGACCCAG | ATGAACTGGACCGGAGCTTCACGAGTCAGATGTTGTCATCACAG c.3360
I I R D P D | E L D R S F T S Q M L S S Q p.1120
. . . . . . g.33780
CCACCCCCTCACGGCGACCTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCC c.3420
P P P H G D L G A P Q N P N A K A A G S p.1140
. . . . . | 29 . g.34251
AGGAAGATCCATTTCAACTGGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGG | GTAAAG c.3480
R K I H F N W L P P S G K P M G Y R | V K p.1160
. . . . . . g.34311
TACTGGATTCAGGGTGACTCCGAATCCGAAGCCCACCTGCTCGACAGCAAGGTGCCCTCA c.3540
Y W I Q G D S E S E A H L L D S K V P S p.1180
. . . . . . g.34371
GTGGAGCTCACCAACCTGTACCCGTATTGCGACTATGAGATGAAGGTGTGCGCCTACGGG c.3600
V E L T N L Y P Y C D Y E M K V C A Y G p.1200
. . . . . | 30 . g.34544
GCTCAGGGCGAGGGACCCTACAGCTCCCTGGTGTCCTGCCGCACCCACCAGGAAG | TGCCC c.3660
A Q G E G P Y S S L V S C R T H Q E V | P p.1220
. . . . . . g.34604
AGCGAGCCAGGGCGTCTGGCCTTCAATGTCGTCTCCTCCACGGTGACCCAGCTGAGCTGG c.3720
S E P G R L A F N V V S S T V T Q L S W p.1240
. . . . . . g.34664
GCTGAGCCGGCTGAGACCAACGGTGAGATCACAGCCTACGAGGTCTGCTATGGCCTGGTC c.3780
A E P A E T N G E I T A Y E V C Y G L V p.1260
. | 31 . . . . . g.35786
AACGATGACAACC | GACCTATTGGGCCCATGAAGAAAGTGCTGGTTGACAACCCTAAGAAC c.3840
N D D N R | P I G P M K K V L V D N P K N p.1280
. . . . . . g.35846
CGGATGCTGCTTATTGAGAACCTTCGGGAGTCCCAGCCCTACCGCTACACGGTGAAGGCG c.3900
R M L L I E N L R E S Q P Y R Y T V K A p.1300
. . . . . . g.35906
CGCAACGGGGCCGGCTGGGGGCCTGAGCGGGAGGCCATCATCAACCTGGCCACCCAGCCC c.3960
R N G A G W G P E R E A I I N L A T Q P p.1320
. | 32 . . . . . g.36055
AAGAGGCCCATGTCCA | TCCCCATCATCCCTGACATCCCTATCGTGGACGCCCAGAGCGGG c.4020
K R P M S I | P I I P D I P I V D A Q S G p.1340
. . . . . . g.36115
GAGGACTACGACAGCTTCCTTATGTACAGCGATGACGTTCTACGCTCTCCATCGGGCAGC c.4080
E D Y D S F L M Y S D D V L R S P S G S p.1360
. . | 33 . . . g.37362
CAGAGGCCCAGCGTCTCCGATGACACTG | GCTGCGGCTGGAAGTTCGAGCCCCTGCTGGGG c.4140
Q R P S V S D D T G | C G W K F E P L L G p.1380
. . . . . . g.37422
GAGGAGCTGGACCTGCGGCGCGTCACGTGGCGGCTGCCCCCGGAGCTCATCCCGCGCCTG c.4200
E E L D L R R V T W R L P P E L I P R L p.1400
. . . . . . g.37482
TCGGCCAGCAGCGGGCGCTCCTCCGACGCCGAGGCGCCCCACGGGCCCCCGGACGACGGC c.4260
S A S S G R S S D A E A P H G P P D D G p.1420
. . . . . | 34 g.38143
GGCGCGGGCGGGAAGGGCGGCAGCCTGCCCCGCAGTGCGACACCCGGGCCCCCCGGAG | AG c.4320
G A G G K G G S L P R S A T P G P P G E | p.1440
. . . . . . g.38203
CACCTGGTGAATGGCCGGATGGACTTTGCCTTCCCGGGCAGCACCAACTCCCTGCACAGG c.4380
H L V N G R M D F A F P G S T N S L H R p.1460
. . . . . . g.38263
ATGACCACGACCAGTGCTGCTGCCTATGGCACCCACCTGAGCCCACACGTGCCCCACCGC c.4440
M T T T S A A A Y G T H L S P H V P H R p.1480
. . . . . . g.38323
GTGCTAAGCACATCCTCCACCCTCACACGGGACTACAACTCACTGACCCGCTCAGAACAC c.4500
V L S T S S T L T R D Y N S L T R S E H p.1500
. . . . . | 35 g.39268
TCACACTCGACCACACTGCCCAGGGACTACTCCACCCTCACCTCCGTCTCCTCCCACG | AC c.4560
S H S T T L P R D Y S T L T S V S S H D | p.1520
. . . . . . g.39328
TCTCGCCTGACTGCTGGTGTGCCCGACACGCCCACCCGCCTGGTGTTCTCTGCCCTGGGG c.4620
S R L T A G V P D T P T R L V F S A L G p.1540
. . . . . . g.39388
CCCACATCTCTCAGAGTGAGCTGGCAGGAGCCGCGGTGCGAGCGGCCGCTGCAGGGCTAC c.4680
P T S L R V S W Q E P R C E R P L Q G Y p.1560
. . | 36 . . . g.40026
AGTGTGGAGTACCAGCTGCTGAACGGCG | GTGAGCTGCATCGGCTCAACATCCCCAACCCT c.4740
S V E Y Q L L N G G | E L H R L N I P N P p.1580
. . . . . . g.40086
GCCCAGACCTCGGTGGTGGTGGAAGACCTCCTGCCCAACCACTCCTACGTGTTCCGCGTG c.4800
A Q T S V V V E D L L P N H S Y V F R V p.1600
. . . . . . g.40146
CGGGCCCAGAGCCAGGAAGGCTGGGGCCGAGAGCGTGAGGGTGTCATCACCATTGAATCC c.4860
R A Q S Q E G W G R E R E G V I T I E S p.1620
. . . | 37. . . g.40292
CAGGTGCACCCGCAGAGCCCACTGTGTCCCCTGCCAG | GCTCCGCCTTCACTTTGAGCACT c.4920
Q V H P Q S P L C P L P G | S A F T L S T p.1640
. . . . . . g.40352
CCCAGTGCCCCAGGCCCGCTGGTGTTCACTGCCCTGAGCCCAGACTCGCTGCAGCTGAGC c.4980
P S A P G P L V F T A L S P D S L Q L S p.1660
. . . . . . g.40412
TGGGAGCGGCCACGGAGGCCCAATGGGGATATCGTCGGCTACCTGGTGACCTGTGAGATG c.5040
W E R P R R P N G D I V G Y L V T C E M p.1680
. | 38 . . . . . g.40555
GCCCAAGGAGGAG | GGCCAGCCACCGCATTCCGGGTGGATGGAGACAGCCCCGAGAGCCGG c.5100
A Q G G G | P A T A F R V D G D S P E S R p.1700
. . . . . . g.40615
CTGACCGTGCCGGGCCTCAGCGAGAACGTGCCCTACAAGTTCAAGGTGCAGGCCAGGACC c.5160
L T V P G L S E N V P Y K F K V Q A R T p.1720
. . . . . | 39 g.40767
ACTGAGGGCTTCGGGCCAGAGCGCGAGGGCATCATCACCATAGAGTCCCAGGATGGAG | GA c.5220
T E G F G P E R E G I I T I E S Q D G G | p.1740
. . . . . . g.40827
CCCTTCCCGCAGCTGGGCAGCCGTGCCGGGCTCTTCCAGCACCCGCTGCAAAGCGAGTAC c.5280
P F P Q L G S R A G L F Q H P L Q S E Y p.1760
. . . . | 40 . g.40992
AGCAGCATCACCACCACCCACACCAGCGCCACCGAGCCCTTCCTAGTGG | ATGGGCTGACC c.5340
S S I T T T H T S A T E P F L V D | G L T p.1780
. . . . . . g.41052
CTGGGGGCCCAGCACCTGGAGGCAGGCGGCTCCCTCACCCGGCATGTGACCCAGGAGTTT c.5400
L G A Q H L E A G G S L T R H V T Q E F p.1800
. . . . . . g.41112
GTGAGCCGGACACTGACCACCAGCGGAACCCTTAGCACCCACATGGACCAACAGTTCTTC c.5460
V S R T L T T S G T L S T H M D Q Q F F p.1820
g.41121
CAAACTTGA c.5469
Q T X p.1822
. . . . . . g.41181
ccgcaccctgccccacccccgccacgtcccactaggcgtcctcccgactcctctcccgga c.*60
. . . . . . g.41241
gcctcctcagctactccatccttgcacccctgggggcccagcccacccgcatgcacagag c.*120
. . . . . . g.41301
caggggctaggtgtctcctgggaggcatgaagggggcaaggtccgtcctctgtgggccca c.*180
. . . . . . g.41361
aacctatttgtaaccaaagagctgggagcagcacaaggacccagcctttgttctgcactt c.*240
. . g.41384
aataaatggttttgctactgcta c.*263
(downstream sequence)
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