(used for mutation description)
(last modified February 12, 2011)
This file was created to facilitate the description of sequence variants in the RAPSN gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008312.1, covering RAPSN transcript variant-1 (NM_005055.3). RAPSN transcript variant-2 (NM_032645.3) skips exons 5 and 6.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . g.5034
cccaactggcagcgacagctgcagacgggctgaa c.-181
. . . . . . g.5094
ccagctttgttcccagggtggcgcctgctctccatccaggccccattccggctcccaccc c.-121
. . . . . . g.5154
gacgctgcttttgttcccacgtttcggggggcagctggcactgtgattcctgccccatga c.-61
. . . . . . g.5214
gtgcctagaggcacggagccaccagggatcaccccacgtgggacacagggcttggggagg c.-1
. . . . . . g.5274
ATGGGGCAGGACCAGACCAAGCAGCAGATCGAGAAGGGGCTCCAGCTGTACCAGTCCAAC c.60
M G Q D Q T K Q Q I E K G L Q L Y Q S N p.20
. . . . . . g.5334
CAGACAGAGAAGGCATTGCAGGTGTGGACAAAGGTGCTGGAGAAGAGCTCGGACCTCATG c.120
Q T E K A L Q V W T K V L E K S S D L M p.40
. . . . . . g.5394
GGGCGCTTCCGCGTGCTGGGCTGCCTGGTCACAGCCCACTCGGAGATGGGCCGCTACAAG c.180
G R F R V L G C L V T A H S E M G R Y K p.60
. | 02 . . . . . g.6076
GAGATGCTGAAG | TTCGCTGTGGTCCAGATCGACACGGCCCGGGAGCTGGAGGATGCCGAC c.240
E M L K | F A V V Q I D T A R E L E D A D p.80
. . . . . . g.6136
TTCCTCCTGGAGAGCTACCTGAACCTGGCACGCAGCAACGAGAAGCTGTGCGAGTTTCAC c.300
F L L E S Y L N L A R S N E K L C E F H p.100
. . . . . . g.6196
AAGACCATCTCCTACTGCAAGACCTGCCTTGGGCTGCCTGGTACCAGGGCAGGTGCCCAG c.360
K T I S Y C K T C L G L P G T R A G A Q p.120
. . . . . . g.6256
CTCGGAGGCCAGGTCAGCCTGAGCATGGGCAATGCCTTCCTGGGCCTCAGCGTCTTCCAG c.420
L G G Q V S L S M G N A F L G L S V F Q p.140
. . . . . . g.6316
AAGGCCCTGGAGAGCTTCGAGAAGGCCCTGCGCTATGCCCACAACAATGATGACGCCATG c.480
K A L E S F E K A L R Y A H N N D D A M p.160
. . . . . | 03 . g.11373
CTCGAGTGCCGCGTGTGCTGCAGCCTGGGCAGCTTCTATGCCCAGGTCAAG | GACTACGAG c.540
L E C R V C C S L G S F Y A Q V K | D Y E p.180
. . . . . . g.11433
AAAGCCCTGTTCTTCCCCTGCAAGGCGGCAGAGCTTGTCAACAACTATGGCAAAGGCTGG c.600
K A L F F P C K A A E L V N N Y G K G W p.200
. . . . . . g.11493
AGCCTGAAGTACCGGGCCATGAGCCAGTACCACATGGCCGTGGCCTATCGCCTGCTGGGC c.660
S L K Y R A M S Q Y H M A V A Y R L L G p.220
. . . | 04 . . . g.12287
CGCCTGGGCAGTGCCATGGAGTGTTGTGAG | GAGTCTATGAAGATCGCGCTGCAGCACGGG c.720
R L G S A M E C C E | E S M K I A L Q H G p.240
. . . . . . g.12347
GACCGGCCACTGCAGGCGCTCTGCCTGCTCTGCTTCGCTGACATCCACCGGAGCCGTGGG c.780
D R P L Q A L C L L C F A D I H R S R G p.260
| 05 . . . . . g.12496
GACCTGGAG | ACAGCCTTCCCCAGGTACGACTCCGCCATGAGCATCATGACCGAGATCGGA c.840
D L E | T A F P R Y D S A M S I M T E I G p.280
^ exons 5 and 6 are alternatively spliced
. . . . . . g.12556
AACCGCCTGGGGCAGGTGCAGGCGCTGCTGGGTGTGGCCAAGTGCTGGGTGGCCAGGAAG c.900
N R L G Q V Q A L L G V A K C W V A R K p.300
. | 06 . . . . . g.13015
GCGCTGGACAAG | GCTCTGGATGCCATCGAGAGAGCCCAGGATCTGGCCGAGGAGGTGGGG c.960
A L D K | A L D A I E R A Q D L A E E V G p.320
| 07 . . . . . . g.15302
AACAAG | CTGAGCCAGCTCAAGCTGCACTGTCTGAGCGAGAGCATTTACCGCAGCAAAGGG c.1020
N K | L S Q L K L H C L S E S I Y R S K G p.340
^
. . . . . . g.15362
CTGCAGCGGGAACTGCGGGCGCACGTTGTGAGGTTCCACGAGTGCGTGGAGGAGACGGAG c.1080
L Q R E L R A H V V R F H E C V E E T E p.360
. . . . . . g.15422
CTCTACTGCGGCCTGTGCGGCGAGTCCATAGGCGAGAAGAACAGCCGGCTGCAGGCCCTA c.1140
L Y C G L C G E S I G E K N S R L Q A L p.380
. . | 08 . . . . g.16166
CCTTGCTCCCACATCTTCCACCTCAG | GTGCCTGCAGAACAACGGGACCCGGAGCTGTCCC c.1200
P C S H I F H L R | C L Q N N G T R S C P p.400
. . . g.16205
AACTGCCGCCGCTCATCCATGAAGCCTGGCTTTGTATGA c.1239
N C R R S S M K P G F V X p.412
. . . . . . g.16265
ctcctggcagcaggcgtgggcttcctcctcgccactcctgctctttctccactgcacgcc c.*60
. . . . . . g.16325
agaggcccatttactcctggggcagctgccaggtcgtcctcaccatagccaaggccttgg c.*120
. . . . . . g.16385
ggcctgcccagggctgctcccctgggcccagctcccctccctgcctctttgtactttgct c.*180
. . . g.16416
ctttatagaaaaataaactgtttgtacctgg c.*211
(downstream sequence)
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