(used for mutation description)
(last modified November 26, 2010)
This file was created to facilitate the description of sequence variants in the ITGA7 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_012343.1, covering ITGA7 transcript variant-2 (NM_002206.2). Transcript variant-3 (NM_001144997.1) uses an upstream alternative promoter/exon 01a, combined with unique exons 02a / 03a and an alternatively spliced with exon 05a (in intron 04). Transcript variant-1 (NM_001144996.1) contains exon 05a instead of exon 05.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . g.9443
gggcgccggagctgcggctgctgtagttgtcctagccggt c.-181
. . . . . . g.9503
gctggggcggcggggtggcggagcggcgggcgggcgggagggctggcggggcgaacgtct c.-121
. . . . . . g.9563
gggagacgtctgaaagaccaacgagactttggagaccagagacgcgcctggggggacctg c.-61
. . . . . . g.9623
gggcttggggcgtgcgagatttcccttgcattcgctgggagctcgcgcagggatcgtccc c.-1
. . . . . . g.9683
ATGGCCGGGGCTCGGAGCCGCGACCCTTGGGGGGCCTCCGGGATTTGCTACCTTTTTGGC c.60
M A G A R S R D P W G A S G I C Y L F G p.20
. . . . . . g.9743
TCCCTGCTCGTCGAACTGCTCTTCTCACGGGCTGTCGCCTTCAATCTGGACGTGATGGGT c.120
S L L V E L L F S R A V A F N L D V M G p.40
. . . . . . g.9803
GCCTTGCGCAAGGAGGGCGAGCCAGGCAGCCTCTTCGGCTTCTCTGTGGCCCTGCACCGG c.180
A L R K E G E P G S L F G F S V A L H R p.60
. . | 02 . . . . g.14161
CAGTTGCAGCCCCGACCCCAGAGCTG | GCTGCTGGTGGGTGCTCCCCAGGCCCTGGCTCTT c.240
Q L Q P R P Q S W | L L V G A P Q A L A L p.80
. . . . . . g.14221
CCTGGGCAGCAGGCGAATCGCACTGGAGGCCTCTTCGCTTGCCCGTTGAGCCTGGAGGAG c.300
P G Q Q A N R T G G L F A C P L S L E E p.100
. . . | 03 . . . g.14380
ACTGACTGCTACAGAGTGGACATCGACCAGGGAG | CTGATATGCAAAAGGAAAGCAAGGAG c.360
T D C Y R V D I D Q G A | D M Q K E S K E p.120
. . . . . | 04 . g.16157
AACCAGTGGTTGGGAGTCAGTGTTCGGAGCCAGGGGCCTGGGGGCAAGATTGTT | ACCTGT c.420
N Q W L G V S V R S Q G P G G K I V | T C p.140
. . . . . . g.16217
GCACACCGATATGAGGCAAGGCAGCGAGTGGACCAGATCCTGGAGACGCGGGATATGATT c.480
A H R Y E A R Q R V D Q I L E T R D M I p.160
. . . . . . g.16277
GGTCGCTGCTTTGTGCTCAGCCAGGACCTGGCCATCCGGGATGAGTTGGATGGTGGGGAA c.540
G R C F V L S Q D L A I R D E L D G G E p.180
. . . . . . g.16337
TGGAAGTTCTGTGAGGGACGCCCCCAAGGCCATGAACAATTTGGGTTCTGCCAGCAGGGC c.600
W K F C E G R P Q G H E Q F G F C Q Q G p.200
. . . . . . g.16397
ACAGCTGCCGCCTTCTCCCCTGATAGCCACTACCTCCTCTTTGGGGCCCCAGGAACCTAT c.660
T A A A F S P D S H Y L L F G A P G T Y p.220
. | 05 . . . . . g.17366
AATTGGAAGG | GGTTGCTTTTTGTGACCAACATTGATAGCTCAGACCCCGACCAGCTGGTG c.720
N W K G | L L F V T N I D S S D P D Q L V p.240
. . . . . . g.17426
TATAAAACTTTGGACCCTGCTGACCGGCTCCCAGGACCAGCCGGAGACTTGGCCCTCAAT c.780
Y K T L D P A D R L P G P A G D L A L N p.260
. | 06 . . . . . g.18438
AGCTACTTAG | GCTTCTCTATTGACTCGGGGAAAGGTCTGGTGCGTGCAGAAGAGCTGAGC c.840
S Y L G | F S I D S G K G L V R A E E L S p.280
. . . . . . g.18498
TTTGTGGCTGGAGCCCCCCGCGCCAACCACAAGGGTGCTGTGGTCATCCTGCGCAAGGAC c.900
F V A G A P R A N H K G A V V I L R K D p.300
. . . . . . g.18558
AGCGCCAGTCGCCTGGTGCCCGAGGTTATGCTGTCTGGGGAGCGCCTGACCTCCGGCTTT c.960
S A S R L V P E V M L S G E R L T S G F p.320
. . . | 07 . . g.18751
GGCTACTCACTGGCTGTGGCTGACCTCAACAGTGATGG | CTGGCCAGACCTGATAGTGGGT c.1020
G Y S L A V A D L N S D G | W P D L I V G p.340
. . . . . . g.18811
GCCCCCTACTTCTTTGAGCGCCAAGAAGAGCTGGGGGGTGCTGTGTATGTGTACTTGAAC c.1080
A P Y F F E R Q E E L G G A V Y V Y L N p.360
. . . . . . g.18871
CAGGGGGGTCACTGGGCTGGGATCTCCCCTCTCCGGCTCTGCGGCTCCCCTGACTCCATG c.1140
Q G G H W A G I S P L R L C G S P D S M p.380
. . . . . | 08 . g.19287
TTCGGGATCAGCCTGGCTGTCCTGGGGGACCTCAACCAAGATGGCTTTCCAG | ATATTGCA c.1200
F G I S L A V L G D L N Q D G F P D | I A p.400
. . . . . . g.19347
GTGGGTGCCCCCTTTGATGGTGATGGGAAAGTCTTCATCTACCATGGGAGCAGCCTGGGG c.1260
V G A P F D G D G K V F I Y H G S S L G p.420
. . | 09 . . . . g.19522
GTTGTCGCCAAACCTTCACAG | GTGCTGGAGGGCGAGGCTGTGGGCATCAAGAGCTTCGGC c.1320
V V A K P S Q | V L E G E A V G I K S F G p.440
. . . . . . g.19582
TACTCCCTGTCAGGCAGCTTGGATATGGATGGGAACCAATACCCTGACCTGCTGGTGGGC c.1380
Y S L S G S L D M D G N Q Y P D L L V G p.460
. . | 10 . . . g.19790
TCCCTGGCTGACACCGCAGTGCTCTTCAG | GGCCAGACCCATCCTCCATGTCTCCCATGAG c.1440
S L A D T A V L F R | A R P I L H V S H E p.480
. . . . . . g.19850
GTCTCTATTGCTCCACGAAGCATCGACCTGGAGCAGCCCAACTGTGCTGGCGGCCACTCG c.1500
V S I A P R S I D L E Q P N C A G G H S p.500
| 11 . . . . . . g.20083
GTCTG | TGTGGACCTAAGGGTCTGTTTCAGCTACATTGCAGTCCCCAGCAGCTATAGCCCT c.1560
V C | V D L R V C F S Y I A V P S S Y S P p.520
| 12. . . . . . g.20290
ACTGTGG | CCCTGGACTATGTGTTAGATGCGGACACAGACCGGAGGCTCCGGGGCCAGGTT c.1620
T V A | L D Y V L D A D T D R R L R G Q V p.540
. . . . . . g.20350
CCCCGTGTGACGTTCCTGAGCCGTAACCTGGAAGAACCCAAGCACCAGGCCTCGGGCACC c.1680
P R V T F L S R N L E E P K H Q A S G T p.560
. . . . . | 13. g.20876
GTGTGGCTGAAGCACCAGCATGACCGAGTCTGTGGAGACGCCATGTTCCAGCTCCAG | GAA c.1740
V W L K H Q H D R V C G D A M F Q L Q | E p.580
. . . . . . g.20936
AATGTCAAAGACAAGCTTCGGGCCATTGTAGTGACCTTGTCCTACAGTCTCCAGACCCCT c.1800
N V K D K L R A I V V T L S Y S L Q T P p.600
. . . . . . g.20996
CGGCTCCGGCGACAGGCTCCTGGCCAGGGGCTGCCTCCAGTGGCCCCCATCCTCAATGCC c.1860
R L R R Q A P G Q G L P P V A P I L N A p.620
. . | 14. . . . g.21701
CACCAGCCCAGCACCCAGCGGGCAGAG | ATCCACTTCCTGAAGCAAGGCTGTGGTGAAGAC c.1920
H Q P S T Q R A E | I H F L K Q G C G E D p.640
. . . . . . g.21761
AAGATCTGCCAGAGCAATCTGCAGCTGGTCCGCGCCCGCTTCTGTACCCGGGTCAGCGAC c.1980
K I C Q S N L Q L V R A R F C T R V S D p.660
. . | 15 . . . . g.22372
ACGGAATTCCAACCTCTGCCCAT | GGATGTGGATGGAACAACAGCCCTGTTTGCACTGAGT c.2040
T E F Q P L P M | D V D G T T A L F A L S p.680
. . . . . . g.22432
GGGCAGCCAGTCATTGGCCTGGAGCTGATGGTCACCAACCTGCCATCGGACCCAGCCCAG c.2100
G Q P V I G L E L M V T N L P S D P A Q p.700
. . . . . . g.22492
CCCCAGGCTGATGGGGATGATGCCCATGAAGCCCAGCTCCTGGTCATGCTTCCTGACTCA c.2160
P Q A D G D D A H E A Q L L V M L P D S p.720
. . . | 16 . . . g.22634
CTGCACTACTCAGGGGTCCGGGCCCTGGACCCTGCG | GAGAAGCCACTCTGCCTGTCCAAT c.2220
L H Y S G V R A L D P A | E K P L C L S N p.740
. . . . . | 17. g.22786
GAGAATGCCTCCCATGTTGAGTGTGAGCTGGGGAACCCCATGAAGAGAGGTGCCCAG | GTC c.2280
E N A S H V E C E L G N P M K R G A Q | V p.760
. . . . . . g.22846
ACCTTCTACCTCATCCTTAGCACCTCCGGGATCAGCATTGAGACCACGGAACTGGAGGTA c.2340
T F Y L I L S T S G I S I E T T E L E V p.780
. | 18. . . . . g.23018
GAGCTGCTGTTGGCCAC | GATCAGTGAGCAGGAGCTGCATCCAGTCTCTGCACGAGCCCGT c.2400
E L L L A T | I S E Q E L H P V S A R A R p.800
. . . | 19 . . . g.23210
GTCTTCATTGAGCTGCCACTGTCCATTGCAGG | AATGGCCATTCCCCAGCAACTCTTCTTC c.2460
V F I E L P L S I A G | M A I P Q Q L F F p.820
. . . . . . g.23270
TCTGGTGTGGTGAGGGGCGAGAGAGCCATGCAGTCTGAGCGGGATGTGGGCAGCAAGGTC c.2520
S G V V R G E R A M Q S E R D V G S K V p.840
. | 20 . . . . . g.24033
AAGTATGAGGTCACG | GTTTCCAACCAAGGCCAGTCGCTCAGAACCCTGGGCTCTGCCTTC c.2580
K Y E V T | V S N Q G Q S L R T L G S A F p.860
. . . . . . g.24093
CTCAACATCATGTGGCCTCATGAGATTGCCAATGGGAAGTGGTTGCTGTACCCAATGCAG c.2640
L N I M W P H E I A N G K W L L Y P M Q p.880
. . . . . . g.24153
GTTGAGCTGGAGGGCGGGCAGGGGCCTGGGCAGAAAGGGCTTTGCTCTCCCAGGCCCAAC c.2700
V E L E G G Q G P G Q K G L C S P R P N p.900
. | 21 . . . . . g.24378
ATCCTCCACCTG | GATGTGGACAGTAGGGATAGGAGGCGGCGGGAGCTGGAGCCACCTGAG c.2760
I L H L | D V D S R D R R R R E L E P P E p.920
. . . . . . g.24438
CAGCAGGAGCCTGGTGAGCGGCAGGAGCCCAGCATGTCCTGGTGGCCAGTGTCCTCTGCT c.2820
Q Q E P G E R Q E P S M S W W P V S S A p.940
. . | 22 . . . . g.28384
GAGAAGAAGAAAAACATCACCCTG | GACTGCGCCCGGGGCACGGCCAACTGTGTGGTGTTC c.2880
E K K K N I T L | D C A R G T A N C V V F p.960
. . . . . . g.28444
AGCTGCCCACTCTACAGCTTTGACCGCGCGGCTGTGCTGCATGTCTGGGGCCGTCTCTGG c.2940
S C P L Y S F D R A A V L H V W G R L W p.980
. | 23 . . . . g.29047
AACAGCACCTTTCTGGAG | GAGTACTCAGCTGTGAAGTCCCTGGAAGTGATTGTCCGGGCC c.3000
N S T F L E | E Y S A V K S L E V I V R A p.1000
. . . . . | 24. g.29212
AACATCACAGTGAAGTCCTCCATAAAGAACTTGATGCTCCGAGATGCCTCCACAGTG | ATC c.3060
N I T V K S S I K N L M L R D A S T V | I p.1020
. . . . . . g.29272
CCAGTGATGGTATACTTGGACCCCATGGCTGTGGTGGCAGAAGGAGTGCCCTGGTGGGTC c.3120
P V M V Y L D P M A V V A E G V P W W V p.1040
. . . . . . g.29332
ATCCTCCTGGCTGTACTGGCTGGGCTGCTGGTGCTAGCACTGCTGGTGCTGCTCCTGTGG c.3180
I L L A V L A G L L V L A L L V L L L W p.1060
| 25 . . . . . . g.32074
AAG | ATGGGATTCTTCAAACGGGCGAAGCACCCCGAGGCCACCGTGCCCCAGTACCATGCG c.3240
K | M G F F K R A K H P E A T V P Q Y H A p.1080
. . . . . . g.32134
GTGAAGATTCCTCGGGAAGACCGACAGCAGTTCAAGGAGGAGAAGACGGGCACCATCCTG c.3300
V K I P R E D R Q Q F K E E K T G T I L p.1100
. . . . . . g.32194
AGGAACAACTGGGGCAGCCCCCGGCGGGAGGGCCCGGATGCACACCCCATCCTGGCTGCT c.3360
R N N W G S P R R E G P D A H P I L A A p.1120
. . . . . g.32248
GACGGGCATCCCGAGCTGGGCCCCGATGGGCATCCAGGGCCAGGCACCGCCTAG c.3414
D G H P E L G P D G H P G P G T A X p.1137
. . . . . . g.32308
gttcccatgtcccagcctggcctgtggctgccctccatcccttccccagagatggctcct c.*60
. . . . . . g.32368
tgggatgaagagggtagagtgggctgctggtgtcgcatcaagatttggcaggatcggctt c.*120
. . . . . . g.32428
cctcaggggcacagacctctcccacccacaagaactcctcccacccaacttccccttaga c.*180
. . . . . . g.32488
gtgctgtgagatgagagtgggtaaatcagggacagggccatggggtagggtgagaagggc c.*240
. . . . . . g.32548
aggggtgtcctgatgcaaaggtggggagaagggatcctaatcccttcctctcccattcac c.*300
. . . . . . g.32608
cctgtgtaacaggaccccaaggacctgcctccccggaagtgccttaacctagagggtcgg c.*360
. . . . . . g.32668
ggaggaggttgtgtcactgactcaggctgctccttctctagtttcccctctcatctgacc c.*420
. . . . . . g.32728
ttagtttgctgccatcagtctagtggtttcgtggtttcgtctatttattaaaaaatattt c.*480
. g.32738
gagaacaaaa c.*490
(downstream sequence)
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