(used for mutation description)
(last modified November 3, 2012)
This file was created to facilitate the description of sequence variants in the ARHGEF10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008480.1, covering ARHGEF10 transcript NM_014629.2.
(upstream sequence)
. . . . . g.5058
cgggggacgcgggggacgcgggggacggcggggaacggcgggggacggcggggaacag c.-121
. . . . . . g.5118
cgggggacggcggggaacagcgggggacggcggggaacagcaggggactgcgggtcgcgt c.-61
. . | 02 . . . . g.24417
cctggccgccgag | gagctccttcccttaacagagctgagagaggcatctggagctgcagc c.-1
. . . | 03. . . g.39000
ATGGACCAGCGAGAGCCCCTGCCTCCCGCTCCTGCAG | AAAATGAAATGAAATATGATACC c.60
M D Q R E P L P P A P A E | N E M K Y D T p.20
. . . . . . g.39060
AATAATAATGAAGAGGAAGAGGGAGAACAGTTCGATTTTGACAGTGGAGATGAAATCCCA c.120
N N N E E E E G E Q F D F D S G D E I P p.40
. . . . . . g.39120
GAAGCGGACAGACAGGCCCCATCCGCCCCTGAGACAGGAGGTGCTGGAGCCAGTGAAGCC c.180
E A D R Q A P S A P E T G G A G A S E A p.60
. | 04 . . . . . g.40961
CCTGCACCCACAG | GAGGTGAGGATGGAGCTGGAGCAGAAACCACCCCAGTGGCAGAGCCT c.240
P A P T G | G E D G A G A E T T P V A E P p.80
. . . . . . g.41021
ACTAAGCTGGTGCTCCCGATGAAAGTCAACCCATATTCTGTCATCGACATCACGCCATTC c.300
T K L V L P M K V N P Y S V I D I T P F p.100
. . . . . . g.41081
CAGGAGGACCAGCCGCCCACCCCCGTGCCCAGCGCTGAGGAGGAGAATGTGGGTCTCCAT c.360
Q E D Q P P T P V P S A E E E N V G L H p.120
. . . . . . g.41141
GTGCCCTGCGGGTACTTGGTGCCTGTACCCTGCGGCTATGCGGTGCCCTCCAACCTGCCC c.420
V P C G Y L V P V P C G Y A V P S N L P p.140
. . . . . . g.41201
CTCCTGCTGCCCGCCTACTCCAGCCCGGTCATCATCTGCGCCACGTCCCTGGACGAAGAA c.480
L L L P A Y S S P V I I C A T S L D E E p.160
| 05 . . . . . . g.45449
G | AAACACCAGAAGTCACAGAAGATCGCCAGCCCAATTCTCTGAGTTCCGAGGAGCCTCCA c.540
E | T P E V T E D R Q P N S L S S E E P P p.180
| 06 . . . . . . g.47598
ACCAG | TGAAGATCAAGTCGGTCGAGAGGACAGCGCACTTGCCCGCTGGGCCGCAGACCCG c.600
T S | E D Q V G R E D S A L A R W A A D P p.200
. . | 07 . . . . g.50249
GCCAACACAGCCTGGATGGAGA | ATCCAGAGGAAGCAATTTACGATGACGTTCCAAGGGAA c.660
A N T A W M E N | P E E A I Y D D V P R E p.220
. | 08 . . . . g.57629
AACTCAGACTCTGAACCAG | ATGAAATGATTTATGATGATGTTGAGAATGGGGATGAAGGT c.720
N S D S E P D | E M I Y D D V E N G D E G p.240
. . . . . . g.57689
GGAAACAGCTCCTTGGAATACGGATGGAGTTCGAGTGAATTTGAAAGTTACGAAGAGCAG c.780
G N S S L E Y G W S S S E F E S Y E E Q p.260
. . . . . . g.57749
AGTGACTCGGAGTGCAAGAATGGGATTCCCAGGTCCTTCCTGCGCAGCAACCACAAAAAG c.840
S D S E C K N G I P R S F L R S N H K K p.280
| 09 . . . . . . g.61122
CAA | CTTTCTCATGACCTAACCCGTTTAAAGGAGCACTATGAGAAAAAGATGAGAGATTTG c.900
Q | L S H D L T R L K E H Y E K K M R D L p.300
. . . . . . g.61182
ATGGCAAGCACGGTGGGCGTGGTGGAGATTCAGCAGCTCAGGCAGAAGCATGAACTGAAG c.960
M A S T V G V V E I Q Q L R Q K H E L K p.320
| 10 . . . . . . g.63712
| ATGCAGAAGCTCGTGAAGGCCGCGAAGGACGGCACCAAGGACGGGCTGGAGAGGACCAGG c.1020
| M Q K L V K A A K D G T K D G L E R T R p.340
. . . . . | 11 . g.66623
GCAGCCGTGAAGAGGGGCCGCTCCTTCATCAGGACCAAGTCTCTCATCGCACAGG | ATCAC c.1080
A A V K R G R S F I R T K S L I A Q D | H p.360
. . . . . . g.66683
AGATCTTCTCTTGAGGAAGAACAGAATTTGTTCATTGATGTTGACTGCAAGCACCCGGAA c.1140
R S S L E E E Q N L F I D V D C K H P E p.380
. . . . | 12 . . g.74604
GCCATCTTGACCCCGATGCCCGAGGGTTTATCTCAGCAGCAG | GTTGTAAGAAGATATATA c.1200
A I L T P M P E G L S Q Q Q | V V R R Y I p.400
. . . . . . g.74664
CTGGGTTCAGTTGTCGACAGTGAAAAGAACTACGTAGATGCTCTTAAGAGGATTTTGGAG c.1260
L G S V V D S E K N Y V D A L K R I L E p.420
| 13 . . . . . . g.75470
| CAATATGAGAAGCCGCTGTCTGAGATGGAGCCAAAGGTTCTGAGTGAGAGGAAGCTGAAG c.1320
| Q Y E K P L S E M E P K V L S E R K L K p.440
. . . . . . g.75530
ACGGTGTTCTACCGAGTCAAAGAGATCCTGCAGTGCCACTCGCTATTTCAGATCGCGCTG c.1380
T V F Y R V K E I L Q C H S L F Q I A L p.460
. . . . . . g.75590
GCCAGCCGCGTTTCCGAGTGGGACTCCGTGGAAATGATAGGCGATGTCTTCGTGGCTTCG c.1440
A S R V S E W D S V E M I G D V F V A S p.480
| 14 . . . . . . g.77410
| TTTTCTAAGTCCATGGTGCTGGATGCATACAGTGAATATGTGAACAATTTCAGCACAGCC c.1500
| F S K S M V L D A Y S E Y V N N F S T A p.500
. . . . . | 15. g.79453
GTGGCAGTCCTCAAGAAAACATGTGCCACAAAGCCCGCTTTTCTTGAATTTTTAAAG | CAG c.1560
V A V L K K T C A T K P A F L E F L K | Q p.520
. . . . . . g.79513
GAACAGGAGGCCAGCCCCGATCGAACCACGCTCTACAGCCTGATGATGAAGCCCATCCAG c.1620
E Q E A S P D R T T L Y S L M M K P I Q p.540
. . . | 16 . . . g.84328
AGGTTCCCACAGTTCATCCTCCTGCTCCAG | GACATGCTGAAGAACACCTCCAAAGGCCAC c.1680
R F P Q F I L L L Q | D M L K N T S K G H p.560
. . . . . . g.84388
CCCGACAGGCTGCCTCTTCAGATGGCCCTGACAGAGCTCGAAACACTAGCAGAGAAGTTA c.1740
P D R L P L Q M A L T E L E T L A E K L p.580
. . . . . . g.84448
AATGAAAGAAAGAGAGATGCTGATCAACGCTGTGAAGTGAAGCAAATAGCCAAAGCCATA c.1800
N E R K R D A D Q R C E V K Q I A K A I p.600
. . | 17 . . . . g.86627
AACGAAAGATACCTGAACAAG | CTTCTCAGCAGTGGAAGCCGATACCTCATTCGATCAGAT c.1860
N E R Y L N K | L L S S G S R Y L I R S D p.620
. . . . . . g.86687
GATATGATAGAAACAGTTTACAACGACAGAGGAGAGATTGTTAAAACCAAAGAACGCCGA c.1920
D M I E T V Y N D R G E I V K T K E R R p.640
. . . . | 18. . g.90325
GTCTTCATGTTAAATGATGTGTTAATGTGTGCCACCGTCAGCTCACG | CCCCTCTCATGAC c.1980
V F M L N D V L M C A T V S S R | P S H D p.660
. . . . . . g.90385
AGCCGTGTGATGAGCAGCCAGAGGTACTTGCTGAAGTGGAGCGTTCCACTGGGACATGTG c.2040
S R V M S S Q R Y L L K W S V P L G H V p.680
. . . . . . g.90445
GACGCCATCGAGTATGGCAGCAGCGCAGGCACGGGCGAGCACAGCAGGCACCTTGCCGTT c.2100
D A I E Y G S S A G T G E H S R H L A V p.700
. . . . | 19 . . g.103998
CACCCGCCGGAGAGCCTGGCCGTGGTTGCTAACGCGAAACCAA | ACAAAGTTTACATGGGG c.2160
H P P E S L A V V A N A K P N | K V Y M G p.720
. . . . . . g.104058
CCAGGACAACTGTATCAAGATTTACAAAACTTGTTGCATGACTTAAATGTAATTGGCCAA c.2220
P G Q L Y Q D L Q N L L H D L N V I G Q p.740
. . . | 20 . . g.104506
ATCACTCAGCTGATAGGAAACCTTAAAGGAAACTATCAG | AACTTAAACCAGTCAGTAGCC c.2280
I T Q L I G N L K G N Y Q | N L N Q S V A p.760
. . . . . . g.104566
CATGACTGGACATCAGGTTTACAAAGGCTTATTTTGAAGAAAGAAGATGAAATCAGAGCT c.2340
H D W T S G L Q R L I L K K E D E I R A p.780
. . . . | 21. . g.104804
GCGGACTGCTGCAGAATTCAGTTACAGCTTCCCGGGAAGCAGGACAA | ATCTGGGCGACCG c.2400
A D C C R I Q L Q L P G K Q D K | S G R P p.800
. . . . . . g.104864
ACGTTCTTTACAGCTGTGTTCAATACGTTCACCCCTGCCATCAAGGAGTCCTGGGTCAAC c.2460
T F F T A V F N T F T P A I K E S W V N p.820
. . | 22 . . . g.106332
AGCTTACAGATGGCCAAGCTCGCCCTAG | AAGAGGAGAACCACATGGGCTGGTTCTGTGTG c.2520
S L Q M A K L A L E | E E N H M G W F C V p.840
. . . . . . g.106392
GAAGACGATGGGAATCACATTAAAAAGGAGAAGCATCCTCTCCTCGTCGGACACATGCCC c.2580
E D D G N H I K K E K H P L L V G H M P p.860
. . . | 23 . . . g.107424
GTGATGGTGGCCAAGCAGCAGGAGTTCAAG | ATTGAATGTGCTGCTTATAACCCTGAACCT c.2640
V M V A K Q Q E F K | I E C A A Y N P E P p.880
. . . . . | 24. g.109447
TACCTAAATAATGAAAGCCAGCCAGATTCATTTTCCACGGCACATGGTTTCCTGTGG | ATC c.2700
Y L N N E S Q P D S F S T A H G F L W | I p.900
. . . . . . g.109507
GGAAGTTGCACCCATCAAATGGGTCAGATTGCCATCGTCTCGTTTCAAAATTCCACTCCC c.2760
G S C T H Q M G Q I A I V S F Q N S T P p.920
. . . . . . g.109567
AAAGTCATTGAGTGCTTCAACGTGGAATCTCGCATCCTGTGCATGCTGTACGTTCCCGTC c.2820
K V I E C F N V E S R I L C M L Y V P V p.940
. . . . . . g.109627
GAGGAGAAGCGCAGAGAGCCTGGGGCACCCCCGGACCCCGAGACCCCGGCCGTGAGAGCT c.2880
E E K R R E P G A P P D P E T P A V R A p.960
. . . . | 25 . . g.110322
TCTGATGTCCCCACGATCTGTGTAGGGACGGAGGAGGGAAG | CATTTCCATTTATAAAAGC c.2940
S D V P T I C V G T E E G S | I S I Y K S p.980
. . . . . . g.110382
AGTCAAGGCTCCAAGAAAGTGAGACTTCAGCACTTTTTCACTCCTGAGAAGTCCACAGTC c.3000
S Q G S K K V R L Q H F F T P E K S T V p.1000
. . . . . . g.110442
ATGAGCCTGGCTTGCACGTCTCAGAGCCTGTACGCTGGCCTGGTCAACGGGGCAGTCGCC c.3060
M S L A C T S Q S L Y A G L V N G A V A p.1020
. | 26 . . . . g.114858
AGCTACGCCAGAGCCCCAG | ATGGATCCTGGGATTCAGAACCTCAAAAAGTGATCAAGTTA c.3120
S Y A R A P D | G S W D S E P Q K V I K L p.1040
. . . . . . g.114918
GGCGTCCTACCAGTTAGAAGTCTACTCATGATGGAAGACACGTTGTGGGCGGCTTCCGGA c.3180
G V L P V R S L L M M E D T L W A A S G p.1060
. . . . | 27 . . g.126516
GGTCAAGTCTTCATCATCAGTGTGGAGACTCATGCTGTAGAG | GGTCAGCTGGAGGCCCAC c.3240
G Q V F I I S V E T H A V E | G Q L E A H p.1080
. . . . . . g.126576
CAGGAGGAAGGCATGGTGATCTCCCACATGGCCGTGTCCGGCGTCGGGATCTGGATTGCC c.3300
Q E E G M V I S H M A V S G V G I W I A p.1100
. . . . . . g.126636
TTCACCTCAGGGTCCACGCTCCGCCTTTTTCACACGGAAACTCTCAAGCACCTGCAGGAC c.3360
F T S G S T L R L F H T E T L K H L Q D p.1120
. . . | 28. . . g.133745
ATCAACATCGCCACCCCTGTTCACAACATGCTGCCAG | GGCACCAGCGGCTGTCGGTGACG c.3420
I N I A T P V H N M L P G | H Q R L S V T p.1140
. . . . . . g.133805
AGCCTGCTCGTCTGCCACGGATTGCTGATGGTCGGCACCAGCCTGGGAGTCCTCGTGGCC c.3480
S L L V C H G L L M V G T S L G V L V A p.1160
. . . . | 29 . . g.137786
CTGCCGGTCCCACGTCTGCAAGGGATTCCCAAAGTGACCG | GAAGAGGCATGGTCTCCTAC c.3540
L P V P R L Q G I P K V T G | R G M V S Y p.1180
. . . . . . g.137846
CATGCACACAACAGTCCTGTCAAATTCATCGTCCTGGCCACGGCTCTGCACGAGAAAGAC c.3600
H A H N S P V K F I V L A T A L H E K D p.1200
. . . . . . g.137906
AAGGACAAATCCAGGGACAGCCTGGCTCCTGGCCCCGAGCCTCAGGACGAAGACCAGAAG c.3660
K D K S R D S L A P G P E P Q D E D Q K p.1220
. . . . . . g.137966
GACGCACTTCCGAGTGGAGGAGCTGGTTCATCTCTGAGCCAGGGTGACCCTGACGCAGCC c.3720
D A L P S G G A G S S L S Q G D P D A A p.1240
. . . . . . g.138026
ATCTGGTTGGGAGATTCGCTGGGATCGATGACTCAGAAAAGCGACCTGTCCTCCTCATCT c.3780
I W L G D S L G S M T Q K S D L S S S S p.1260
. . . . . . g.138086
GGGTCCCTGAGCTTGTCTCACGGCTCCAGCTCTCTAGAGCACAGATCAGAGGACAGCACC c.3840
G S L S L S H G S S S L E H R S E D S T p.1280
. . . . . . g.138146
ATCTATGATCTCCTGAAGGATCCTGTCTCGCTGAGAAGCAAAGCACGCCGGGCCAAGAAA c.3900
I Y D L L K D P V S L R S K A R R A K K p.1300
. . . . . . g.138206
GCCAAGGCCAGCTCGGCGCTGGTGGTCTGTGGAGGGCAGGGCCACCGCCGGGTGCACAGG c.3960
A K A S S A L V V C G G Q G H R R V H R p.1320
. . . . . . g.138266
AAGGCCCGGCAGCCCCACCAGGAAGAGCTGGCGCCGACCGTCATGGTCTGGCAGATCCCT c.4020
K A R Q P H Q E E L A P T V M V W Q I P p.1340
. g.138281
CTGCTGAATATATAA c.4035
L L N I X p.1344
. . . . . . g.138341
gcaggacggccgccttctgctgtcagaatttgcaatcaagggtgacttctcagctaatcc c.*60
. . . . . . g.138401
tacagcctgagtggttaagctgtgtctacactggttgggaataaattaaaaacagtattt c.*120
. . . . . . g.138461
gggggagaaacgtgcaatagcgtaatggtggtgtccctgccaattccttccttctcttct c.*180
. . . . . . g.138521
gtacagcagaagtaattacaagcacttctcacgaaggcagaagactgatgcaattttcga c.*240
. . . . . . g.138581
gtaattgagtgcagttctgggaaaataccacattctttttgactgctgtagtccatatat c.*300
. . . . . . g.138641
gaatactaaatgttaaacttcatcagcgtcagacctattgtatcatattagagaatttgc c.*360
. . . . . . g.138701
agactaagaatttatgagaaaatatatgtattcagtagtgcaggcatttattaacaattc c.*420
. . . . . . g.138761
ttaaaagttttacctgattcagattcacgacttttatttatattctatatttttgaattt c.*480
. . . . . . g.138821
cagagtaaaatttgttaacaattttaaaagccaggtaacacctaccagtccagttagcat c.*540
. . . . . . g.138881
gatttgctttcagaagtgagctgggttttccaaagtggtataatgtgtgtactgtatatt c.*600
. . . . . . g.138941
ttaacaaagtaatatttttgtattgcatttttctattaaaaaattaacagttaatgtttc c.*660
. . . . . . g.139001
agtcaatgtattatctgtagcatttcacaaataatgtttgctttgaaccaaaatgctcag c.*720
. . . . . . g.139061
tgcctatcaacatttggactcaagcatcaacaccaaattattcctcccttctcgtataaa c.*780
. . . . . . g.139121
tagagtgactatccacaggagaaaagtgtgtgctttagtattagaggagataggcagaga c.*840
. . . . . . g.139181
agtcttgcttagttccttcgtgcagcttcttgcccctgttgacgtggaatgctgtgtctg c.*900
. . . . . . g.139241
ctttagcacgcacgctccgaatgactcctggtgctaggccatgctggctgctgtcactga c.*960
. . . . . . g.139301
gcgggactcaggccaagaggcgtgacctcgggccagcctgtctgttgtgcagacgcctcc c.*1020
. . . . . . g.139361
tctgcagaacgcatcagtttctattctgcagttgcagagccagccccgcgtgagaacgtg c.*1080
. . . . . . g.139421
cataatgagtgcacaccatcatgtcaaggtgcatacttagtgagcgccatcctgctgaac c.*1140
. . . . . . g.139481
gtgtatttcagtgtttcacttactggacggataacaagaaaaaaatcctaacacaggcag c.*1200
. . . . . . g.139541
gcaccagaaataaatgtctcagcactttacagatgactaaaaatgttaattttatgactt c.*1260
. . . . . . g.139601
agccaaatatgttctaggttgcatatatcccccatgtgaaagtgatttcttcccaagctt c.*1320
. . . . . g.139659
ctcaaactgttagctgctgtctgacttcatcaataaagtatttttattttaaaatgca c.*1378
(downstream sequence)
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