(used for variant description)
(last modified December 10, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_001172435.1 in the RAB3GAP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering RAB3GAP1 transcript NM_001172435.1.
(upstream sequence)
. . . . g.5043
cttcttcccggcagccttagcgccaggcccggcgctcctcaag c.-1
. | 02 . . . . g.5207
ATGGCTGCCGACAGTGAG | CCCGAATCCGAGGTATTTGAGATCACGGACTTCACCACTGCC c.60
M A A D S E | P E S E V F E I T D F T T A p.20
. | 03 . . . . . g.10792
TCGGAATGGGAAAG | GTTTATTTCCAAAGTTGAAGAAGTCTTGAATGACTGGAAACTGATT c.120
S E W E R | F I S K V E E V L N D W K L I p.40
. . . | 04 . . . g.43763
GGAAACTCTTTGGGAAAGCCACTCGAAAAG | GGTATATTTACTTCTGGCACATGGGAAGAG c.180
G N S L G K P L E K | G I F T S G T W E E p.60
. . . . . . g.43823
AAATCAGATGAAATTTCCTTTGCTGACTTCAAGTTCTCAGTCACTCATCATTATCTTGTA c.240
K S D E I S F A D F K F S V T H H Y L V p.80
. . . . | 05 . . g.46367
CAAGAGTCCACTGATAAAGAAGGAAAGGATGAGTTATTAGAGG | ATGTTGTTCCACAATCT c.300
Q E S T D K E G K D E L L E D | V V P Q S p.100
. . . . . . g.46427
ATGCAAGATTTGCTGGGTATGAATAATGACTTTCCTCCAAGAGCACATTGCCTGGTAAGA c.360
M Q D L L G M N N D F P P R A H C L V R p.120
| 06 . . . . . . g.65944
TG | GTATGGGCTACGTGAGTTCGTGGTGATTGCCCCTGCTGCACACAGTGACGCTGTTCTC c.420
W | Y G L R E F V V I A P A A H S D A V L p.140
. . . . . . g.66004
AGCGAATCTAAGTGCAACCTTCTTCTGAGTTCTGTTTCTATTGCCTTGGGAAACACTGGC c.480
S E S K C N L L L S S V S I A L G N T G p.160
| 07 . . . . . . g.68009
TG | TCAGGTGCCACTCTTTGTGCAAATTCACCACAAATGGCGAAGAATGTATGTAGGAGAA c.540
C | Q V P L F V Q I H H K W R R M Y V G E p.180
. . . . . . g.68069
TGTCAAGGTCCTGGTGTACGAACTGATTTCGAAATGGTTCATCTTAGAAAAGTGCCAAAT c.600
C Q G P G V R T D F E M V H L R K V P N p.200
. . . . | 08 . g.73566
CAGTACACTCACTTATCAGGTCTGCTGGATATCTTCAAATCAAAGATT | GGATGTCCTTTA c.660
Q Y T H L S G L L D I F K S K I | G C P L p.220
. . . . . . g.73626
ACTCCATTGCCTCCAGTTAGTATTGCTATTCGATTTACCTATGTACTTCAAGATTGGCAG c.720
T P L P P V S I A I R F T Y V L Q D W Q p.240
. . | 09 . . . g.76932
CAGTATTTTTGGCCTCAGCAACCTCCAG | ACATAGATGCCCTTGTAGGAGGAGAAGTTGGA c.780
Q Y F W P Q Q P P D | I D A L V G G E V G p.260
. . . . . | 10 . g.78926
GGCTTGGAGTTTGGCAAGTTACCATTTGGTGCCTGCGAAGATCCTATTAG | TGAACTCCAT c.840
G L E F G K L P F G A C E D P I S | E L H p.280
. . . . . | 11 g.79319
TTAGCTACTACATGGCCTCATCTGACCGAAGGGATCATTGTGGATAATGATGTTTATTC | T c.900
L A T T W P H L T E G I I V D N D V Y S | p.300
. . . . . . g.79379
GATTTGGATCCTATTCAAGCTCCACATTGGTCTGTTAGAGTTCGAAAAGCTGAGAATCCT c.960
D L D P I Q A P H W S V R V R K A E N P p.320
. | 12 . . . . . g.82777
CAGTGTTTGCTAG | GTGATTTTGTCACTGAATTTTTTAAAATTTGCCGTCGAAAGGAGTCA c.1020
Q C L L G | D F V T E F F K I C R R K E S p.340
. . . . | 13 . . g.83301
ACTGATGAGATTCTTGGACGATCTGCATTTGAGGAAGAAGGCAAAG | AAACTGCTGATATA c.1080
T D E I L G R S A F E E E G K E | T A D I p.360
. . . . . . g.83361
ACTCATGCTTTGTCAAAATTGACAGAGCCGGCATCAGTTCCAATTCATAAATTATCAGTT c.1140
T H A L S K L T E P A S V P I H K L S V p.380
. . . . . . g.83421
TCAAATATGGTACACACTGCAAAGAAGAAAATCCGAAAACACAGAGGTGTAGAGGAGTCA c.1200
S N M V H T A K K K I R K H R G V E E S p.400
. . . | 14 . . . g.85654
CCGCTAAATAATGATGTTCTTAATACTATTCTCCTG | TTCTTATTCCCTGATGCTGTTTCT c.1260
P L N N D V L N T I L L | F L F P D A V S p.420
. . . . . . g.85714
GAGAAACCATTAGATGGAACTACTTCAACAGATAATAATAATCCTCCATCAGAGAGTGAA c.1320
E K P L D G T T S T D N N N P P S E S E p.440
| 15 . . . . . . g.86650
GACTAT | AATCTCTACAATCAGTTCAAGTCTGCACCATCTGACAGTTTAACATACAAACTG c.1380
D Y | N L Y N Q F K S A P S D S L T Y K L p.460
. . . . . . g.86710
GCTTTGTGTCTCTGTATGATCAATTTTTACCATGGAGGGTTGAAAGGAGTGGCACACCTC c.1440
A L C L C M I N F Y H G G L K G V A H L p.480
. . . . . | 16 g.88001
TGGCAGGAATTTGTTCTTGAAATGCGTTTCCGATGGGAAAACAACTTTCTGATTCCAGG | A c.1500
W Q E F V L E M R F R W E N N F L I P G | p.500
. . . . . | 17 . g.88305
TTAGCAAGTGGACCCCCAGATCTGAGGTGTTGTTTACTGCATCAGAAACTACAG | ATGTTA c.1560
L A S G P P D L R C C L L H Q K L Q | M L p.520
. . . . . . g.88365
AATTGTTGTATTGAAAGAAAGAAGGCACGTGATGAGGGGAAAAAGACAAGTGCTTCAGAT c.1620
N C C I E R K K A R D E G K K T S A S D p.540
. . . . . . g.88425
GTCACTAATATATATCCAGGGGATGCTGGAAAAGCAGGAGACCAGTTGGTGCCAGATAAT c.1680
V T N I Y P G D A G K A G D Q L V P D N p.560
. . . . . . g.88485
CTAAAAGAAACAGATAAGGAAAAGGGAGAGGTAGGAAAATCTTGGGATTCCTGGAGTGAC c.1740
L K E T D K E K G E V G K S W D S W S D p.580
. . . . . . g.88545
AGCGAAGAAGAATTTTTTGAATGCCTAAGTGATACTGAAGAACTTAAAGGAAATGGACAA c.1800
S E E E F F E C L S D T E E L K G N G Q p.600
. . . . . . g.88605
GAGAGTGGCAAGAAAGGAGGACCTAAGGAGATGGCAAATTTAAGGCCGGAAGGACGGCTC c.1860
E S G K K G G P K E M A N L R P E G R L p.620
. . . . . . g.88665
TATCAGCATGGGAAACTTACACTGCTGCATAATGGAGAACCTCTCTACATTCCAGTAACC c.1920
Y Q H G K L T L L H N G E P L Y I P V T p.640
| 18 . . . . . . g.103161
CAG | GAACCAGCACCTATGACAGAAGATCTGCTAGAAGAGCAGTCTGAAGTTTTAGCTAAA c.1980
Q | E P A P M T E D L L E E Q S E V L A K p.660
. . . . . . g.103221
TTAGGTACATCGGCAGAGGGGGCTCACCTTCGAGCACGCATGCAGAGTGCCTGTCTGCTC c.2040
L G T S A E G A H L R A R M Q S A C L L p.680
. . | 19 . . . . g.106423
TCAGATATGGAGTCTTTTAAG | GCAGCTAATCCAGGTTGCTCCCTGGAAGATTTTGTGAGG c.2100
S D M E S F K | A A N P G C S L E D F V R p.700
. . . . . . g.106483
TGGTATTCACCCCGGGATTATATTGAAGAGGAGGTGATTGATGAAAAGGGCAATGTGGTG c.2160
W Y S P R D Y I E E E V I D E K G N V V p.720
. . . . . . g.106543
CTGAAAGGAGAACTGAGTGCCCGGATGAAGATTCCAAGCAATATGTGGGTAGAAGCCTGG c.2220
L K G E L S A R M K I P S N M W V E A W p.740
. . . . . . g.106603
GAAACAGCTAAGCCAATTCCTGCTAGAAGGCAAAGGAGACTCTTTGATGATACACGGGAA c.2280
E T A K P I P A R R Q R R L F D D T R E p.760
| 20 . . . . . g.115341
GCAGAAAAG | GTGCTGCACTATCTGGCAATCCAGAAACCTGCAGACCTTGCTCGGCACCTG c.2340
A E K | V L H Y L A I Q K P A D L A R H L p.780
. . . . | 21 . . g.115497
TTACCTTGTGTGATTCATGCAGCTGTACTCAAGGTAAAGGAAGAAG | AAAGTCTCGAAAAC c.2400
L P C V I H A A V L K V K E E E | S L E N p.800
. . . . . . g.115557
ATTTCTTCAGTTAAGAAGATCATAAAGCAGATAATATCCCATTCCAGTAAAGTTTTGCAC c.2460
I S S V K K I I K Q I I S H S S K V L H p.820
. . . | 22 . . . g.115751
TTCCCCAATCCAGAAGACAAGAAATTGGAA | GAAATCATTCACCAGATTACTAATGTGGAA c.2520
F P N P E D K K L E | E I I H Q I T N V E p.840
. . . . . . g.115811
GCTCTCATTGCCAGAGCTCGGTCACTAAAAGCCAAGTTTGGAACTGAGAAATGTGAACAG c.2580
A L I A R A R S L K A K F G T E K C E Q p.860
. . | 23 . . . . g.117363
GAGGAGGAAAAGGAAGATCTTGAAAG | GTTTGTGAGTTGCCTGCTGGAGCAGCCTGAAGTG c.2640
E E E K E D L E R | F V S C L L E Q P E V p.880
. . . . . . g.117423
TTAGTCACCGGTGCAGGAAGAGGACATGCTGGCAGGATCATTCACAAGCTGTTTGTGAAT c.2700
L V T G A G R G H A G R I I H K L F V N p.900
| 24 . . | 25 . . . g.121310
GCCCAGAGG | CTGACTGAATCTTCTGATGAG | GCTGCAGCTATGACTCCACCAGAGGAGGAA c.2760
A Q R | L T E S S D E | A A A M T P P E E E p.920
. . . . . . g.121370
TTGAAGAGAATGGGCTCCCCAGAGGAAAGAAGGCAGAACTCCGTGTCAGACTTCCCACCC c.2820
L K R M G S P E E R R Q N S V S D F P P p.940
. . . . . . g.121430
CCTGCTGGCCGGGAATTCATTTTGCGCACCACTGTGCCGCGCCCTGCTCCCTACTCCAAA c.2880
P A G R E F I L R T T V P R P A P Y S K p.960
. . . . . . g.121490
GCTCTGCCTCAGCGGATGTACAGTGTTCTCACCAAAGAGGACTTTAGACTTGCAGGTGCC c.2940
A L P Q R M Y S V L T K E D F R L A G A p.980
. . g.121517
TTTTCATCAGATACTTCCTTCTTCTGA c.2967
F S S D T S F F X p.988
. . . . . . g.121577
ttcttctagcattactcgttggtggcttcagagacagtgctgcctcctcctgagggaggg c.*60
. . . . . . g.121637
aaggtaccagggagaacctgggaggtcctggagagggccctgtccagttgggtgatcagg c.*120
. . . . . . g.121697
aatcaaaccagcatcggaaagacttcccagcaccaagcttgagctgtgtcgtttcgtgga c.*180
. . . . . . g.121757
gggggcagcgaggatgggcttgagctgttgagagatttctgccctagagatggcctttgt c.*240
. . . . . . g.121817
atatgggggggtggtggggggacacaaacacatcagacactccgtcctcacactggcagg c.*300
. . . . . . g.121877
acggtgttcatcgcattctcttctgtgaccagcctctaggctagcggctgcattcgtggt c.*360
. . . . . . g.121937
ctgtgcaaacacttcgtggttctatatatcagcagcaagtgtgcaaaataaaggacctgt c.*420
. . . . . . g.121997
taactcagatttctggatattttggtggtagcttctagtcccagaatctgtgtttttaaa c.*480
. . . . . . g.122057
atactacatgacattctgtctattcaatcacctggtggtcatctttcttgtactaattaa c.*540
. . . . . . g.122117
ctgttgatgagcattttggatattctaggagaaagcctataatttcacatagtttctctt c.*600
. . . . . . g.122177
tttcatgtaactgtaacctaaatgtattacttctgataaaactatatatcaaatgtcact c.*660
. . . . . . g.122237
gcaaattagttttatatctgtcatgtgagatttgtcttacttatttttcttttggttgcc c.*720
. . . . . . g.122297
atggaagttatggccctgaaaatcgtctccctccccttctcttgctgtacagcatgcgtt c.*780
. . . . . . g.122357
ctctttttgtggttgctggctgggtactgtatttaatgaagtagagaatagcacttgcaa c.*840
. . . . . . g.122417
aaatacagtcttggtacctagagactgtcatgcagatagtataatttggtatatgtgcta c.*900
. . . . . . g.122477
atgcattgagtagaggattattttaacacactattttgcttttgtattttagttaaaata c.*960
. . . . . . g.122537
atcgatggggatgtgtagcccccccgtgtgaggatgacatcaccacatttctagtttcat c.*1020
. . . . . . g.122597
ggagctcaagatgtcttgtgtctgtgtggctagatggcctctgcttggtaatcttatttt c.*1080
. . . . . . g.122657
taggcctaaaattcccacttaaatccaaagtaaaaatggttatactgaagcataaacctt c.*1140
. . . . . . g.122717
gcctgtgtaattttaaaaaattaatagagctgtgcaaaccctgttatttttgtaaaaaaa c.*1200
. . . . . . g.122777
aaaaaaaatacatatctatatataatatgtgtgtgtgtgtgacatatgcacacgtctctg c.*1260
. . . . . . g.122837
tgtatgtgaagtaggggaggccctgggggatgacctcccagcctttatgatgcttttctc c.*1320
. . . . . . g.122897
tatgctgctggacttcattcttactggtccacgcagatgcaggcggcctgaggccagtgc c.*1380
. . . . . . g.122957
tgtaccaagtagaagacggttcctaaggacagagtttgtctgttttctaacaaagaaaaa c.*1440
. . . . . . g.123017
ttctacaaaggagaggttgggcgttacaaaggcattgtgaatctaataaaaggaaagtgt c.*1500
. . . . . . g.123077
cgctttctgtggcgttttctttcattttctcccgctgaggcatttcagtctaatttcatg c.*1560
. . . . . . g.123137
tggttttgtgctgtctcagctctaatgtttgcagcctgctgagcctaacaaggcagtggt c.*1620
. . . . . . g.123197
ctcaagaacattctttgtgcctttttaaagtactccattttatttttatgatagttatgt c.*1680
. . . . . . g.123257
atttatttcacagatatatttaagtacccactttgtgtcaggtacagtacaagcaatgaa c.*1740
. . . . . . g.123317
gataaaacagaaaccaaaacacactcccttacagggaaaactgacaccacgttgccacaa c.*1800
. . . . . . g.123377
aatgttgagtatagtcaactctgctgtgtggatcggagggcctgcatttatcctacaaat c.*1860
. . . . . . g.123437
aattgaatgtaatcctacattcatgtattcattggcagtacggagtaataaatgcagcaa c.*1920
g.123446
tgtcataaa c.*1929
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build beta-11
©2004-2012 Leiden University Medical Center