(used for variant description)
(last modified May 8, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000532.4 in the PCCB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008939.1, covering PCCB transcript NM_000532.4.
(upstream sequence)
. . . . . g.5051
agcacatgcgtactcaggtgcgccggtaggggacgcgccggcacagcaaaa c.-1
. . . . . . g.5111
ATGGCGGCGGCATTACGGGTGGCGGCGGTCGGGGCAAGGCTCAGCGTTCTGGCGAGCGGT c.60
M A A A L R V A A V G A R L S V L A S G p.20
. . . . . . g.5171
CTCCGCGCCGCGGTCCGCAGCCTTTGCAGCCAGGCCACCTCTGTTAACGAACGCATCGAA c.120
L R A A V R S L C S Q A T S V N E R I E p.40
. . . . . . g.5231
AACAAGCGCCGGACCGCGCTGCTGGGAGGGGGCCAACGCCGTATTGACGCGCAGCACAAG c.180
N K R R T A L L G G G Q R R I D A Q H K p.60
| 02 . . . . . . g.10588
CGA | GGAAAGCTAACAGCCAGGGAGAGGATCAGTCTCTTGCTGGACCCTGGCAGCTTTGTT c.240
R | G K L T A R E R I S L L L D P G S F V p.80
. . . . . . g.10648
GAGAGCGACATGTTTGTGGAACACAGATGTGCAGATTTTGGAATGGCTGCTGATAAGAAT c.300
E S D M F V E H R C A D F G M A A D K N p.100
| 03 . . . . . . g.11287
AAG | TTTCCTGGAGACAGCGTGGTCACTGGACGAGGCCGAATCAATGGAAGATTGGTTTAT c.360
K | F P G D S V V T G R G R I N G R L V Y p.120
. | 04 . . . . . g.15202
GTCTTCAGTCAG | GATTTTACAGTTTTTGGAGGCAGTCTGTCAGGAGCACATGCCCAAAAG c.420
V F S Q | D F T V F G G S L S G A H A Q K p.140
| 05 . . . . . g.16678
ATCTGCAAA | ATCATGGACCAGGCCATAACGGTGGGGGCTCCAGTGATTGGGCTGAATGAC c.480
I C K | I M D Q A I T V G A P V I G L N D p.160
. . . . . . g.16738
TCTGGGGGAGCACGGATCCAAGAAGGAGTGGAGTCTTTGGCTGGCTATGCAGACATCTTT c.540
S G G A R I Q E G V E S L A G Y A D I F p.180
| 06 . . . . . . g.38569
CTG | AGGAATGTTACGGCATCCGGAGTCATCCCTCAGATTTCTCTGATCATGGGCCCATGT c.600
L | R N V T A S G V I P Q I S L I M G P C p.200
. . . . . | 07 . g.48437
GCTGGTGGGGCCGTCTACTCCCCAGCCCTAACAGACTTCACGTTCATGGTAAAG | GACACC c.660
A G G A V Y S P A L T D F T F M V K | D T p.220
. . . . . . g.48497
TCCTACCTGTTCATCACTGGCCCTGATGTTGTGAAGTCTGTCACCAATGAGGATGTTACC c.720
S Y L F I T G P D V V K S V T N E D V T p.240
. . . . | 08 . . g.52644
CAGGAGGAGCTCGGTGGTGCCAAGACCCACACCACCATGTCAG | GTGTGGCCCACAGAGCT c.780
Q E E L G G A K T H T T M S G | V A H R A p.260
. . . . . . g.52704
TTTGAAAATGATGTTGATGCCTTGTGTAATCTCCGGGATTTCTTCAACTACCTGCCCCTG c.840
F E N D V D A L C N L R D F F N Y L P L p.280
. . . . | 09 . . g.55721
AGCAGTCAGGACCCGGCTCCCGTCCGTGAGTGCCACGATCCCAG | TGACCGTCTGGTTCCT c.900
S S Q D P A P V R E C H D P S | D R L V P p.300
. . . . . . g.55781
GAGCTTGACACAATTGTCCCTTTGGAATCAACCAAAGCCTACAACATGGTGGACATCATA c.960
E L D T I V P L E S T K A Y N M V D I I p.320
| 10 . . . . . . g.71670
CACTCT | GTTGTTGATGAGCGTGAATTTTTTGAGATCATGCCCAATTATGCCAAGAACATC c.1020
H S | V V D E R E F F E I M P N Y A K N I p.340
. . . . . . g.71730
ATTGTTGGTTTTGCAAGAATGAATGGGAGGACTGTTGGAATTGTTGGCAACCAACCTAAG c.1080
I V G F A R M N G R T V G I V G N Q P K p.360
. | 11 . . . . . g.81528
GTGGCCTCAG | GATGCTTGGATATTAATTCATCTGTGAAAGGGGCTCGTTTTGTCAGATTC c.1140
V A S G | C L D I N S S V K G A R F V R F p.380
. . . . . | 12 g.81832
TGTGATGCATTCAATATTCCACTCATCACTTTTGTTGATGTCCCTGGCTTTCTACCTG | GC c.1200
C D A F N I P L I T F V D V P G F L P G | p.400
. . . . . . g.81892
ACAGCACAGGAATACGGGGGCATCATCCGGCATGGTGCCAAGCTTCTCTACGCATTTGCT c.1260
T A Q E Y G G I I R H G A K L L Y A F A p.420
. . . | 13 . . g.82330
GAGGCAACTGTACCCAAAGTCACAGTCATCACCAGGAAG | GCCTATGGAGGTGCCTATGAT c.1320
E A T V P K V T V I T R K | A Y G G A Y D p.440
. . . . . . g.82390
GTCATGAGCTCTAAGCACCTTTGTGGTGATACCAACTATGCCTGGCCCACCGCAGAGATT c.1380
V M S S K H L C G D T N Y A W P T A E I p.460
. | 14 . . . . g.83475
GCAGTCATGGGAGCAAAG | GGCGCTGTGGAGATCATCTTCAAAGGGCATGAGAATGTGGAA c.1440
A V M G A K | G A V E I I F K G H E N V E p.480
. . . . . | 15 g.84582
GCTGCTCAGGCAGAGTACATCGAGAAGTTTGCCAACCCTTTCCCTGCAGCAGTGCGAG | GG c.1500
A A Q A E Y I E K F A N P F P A A V R G | p.500
. . . . . . g.84642
TTTGTGGATGACATCATCCAACCTTCTTCCACACGTGCCCGAATCTGCTGTGACCTGGAT c.1560
F V D D I I Q P S S T R A R I C C D L D p.520
. . . . . . g.84702
GTCTTGGCCAGCAAGAAGGTACAACGTCCTTGGAGAAAACATGCAAATATTCCATTGTAA c.1620
V L A S K K V Q R P W R K H A N I P L X p.539
. . . . . . g.84762
acaaatcaaaggaaaagaaaccaagaactgaattactgtctgcccattcacatcccattc c.*60
. . . . . . g.84822
ctgccttttgcaatcatgaaacctgggaatccaaatagttggataacttagaataactaa c.*120
. . g.84847
gtttattaaattctagaaagatctc c.*145
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center