(used for variant description)
(last modified May 8, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000282.3 in the PCCA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008768.1, covering PCCA transcript NM_000282.3.
(upstream sequence)
. . . . g.4978
ggcatcgggtttctggctcgtgatttgccggagctcctgcgctccc c.-61
. . . . . . g.5038
cttctccaccccctccggctgtgtgagaggtcagcagaggggcggtctgcggggacaaca c.-1
. . . . . . g.5098
ATGGCGGGGTTCTGGGTCGGGACAGCACCGCTGGTCGCTGCCGGACGGCGTGGGCGGTGG c.60
M A G F W V G T A P L V A A G R R G R W p.20
. . . . | 02 . . g.18815
CCGCCGCAGCAGCTGATGCTGAGCGCGGCGCTGCGGACCCTGAAG | CATGTTCTGTACTAT c.120
P P Q Q L M L S A A L R T L K | H V L Y Y p.40
. . . . . . g.18875
TCAAGACAGTGCTTAATGGTGTCCCGTAATCTTGGTTCAGTGGGATATGATCCTAATGAA c.180
S R Q C L M V S R N L G S V G Y D P N E p.60
| 03 . . . . . | 04 . g.27919
AAA | ACTTTTGATAAAATTCTTGTTGCTAATAGAGGAGAAATTGCATGTCGG | GTTATTAGA c.240
K | T F D K I L V A N R G E I A C R | V I R p.80
. . . . . . g.27979
ACTTGCAAGAAGATGGGCATTAAGACAGTTGCCATCCACAGTGATGTTGATGCTAGTTCT c.300
T C K K M G I K T V A I H S D V D A S S p.100
| 05 . . . . . . g.70956
| GTTCATGTGAAAATGGCGGATGAGGCTGTCTGTGTTGGCCCAGCTCCCACCAGTAAAAGC c.360
| V H V K M A D E A V C V G P A P T S K S p.120
. . . . . | 06 . g.73210
TACCTCAACATGGATGCCATCATGGAAGCCATTAAGAAAACCAGGGCCCAAGCT | GTACAT c.420
Y L N M D A I M E A I K K T R A Q A | V H p.140
. . . . | 07 . g.125261
CCAGGTTATGGATTCCTTTCAGAAAACAAAGAATTTGCCAGATGTTTG | GCAGCAGAAGAT c.480
P G Y G F L S E N K E F A R C L | A A E D p.160
. . . . . . g.125321
GTCGTTTTCATTGGACCTGACACACATGCTATTCAAGCCATGGGCGACAAGATTGAAAGC c.540
V V F I G P D T H A I Q A M G D K I E S p.180
. . . . . . g.125381
AAATTATTAGCTAAGAAAGCAGAGGTTAATACAATCCCTGGCTTTGATGGAGTAGTCAAG c.600
K L L A K K A E V N T I P G F D G V V K p.200
| 08 . . . | 09. . . g.173535
| GATGCAGAAGAAGCTGTCAGAATTGCAAGGGAAATTG | GCTACCCTGTCATGATCAAGGCC c.660
| D A E E A V R I A R E I G | Y P V M I K A p.220
. . . . . | 10 . g.178650
TCAGCAGGTGGTGGTGGGAAAGGCATGCGCATTGCTTGGGATGATGAAGAGACCAG | GGAT c.720
S A G G G G K G M R I A W D D E E T R | D p.240
. . . . . . g.178710
GGTTTTAGATTGTCATCTCAAGAAGCTGCTTCTAGTTTTGGCGATGATAGACTACTAATA c.780
G F R L S S Q E A A S S F G D D R L L I p.260
. . . | 11 . . g.184627
GAAAAATTTATTGATAATCCTCGTCATATAGAAATCCAG | GTTCTAGGTGATAAACATGGG c.840
E K F I D N P R H I E I Q | V L G D K H G p.280
. . . . . . g.184687
AATGCTTTATGGCTTAATGAAAGAGAGTGCTCAATTCAGAGAAGAAATCAGAAGGTGGTG c.900
N A L W L N E R E C S I Q R R N Q K V V p.300
. | 12 . . . . . g.189159
GAGGAAGCACCAAG | CATTTTTTTGGATGCGGAGACTCGAAGAGCGATGGGAGAACAAGCT c.960
E E A P S | I F L D A E T R R A M G E Q A p.320
. . . . . . g.189219
GTAGCTCTTGCCAGAGCAGTAAAATATTCCTCTGCTGGGACCGTGGAGTTCCTTGTGGAC c.1020
V A L A R A V K Y S S A G T V E F L V D p.340
. . . . | 13 . . g.217392
TCTAAGAAGAATTTTTATTTCTTGGAAATGAATACAAGACTCCAG | GTTGAGCATCCTGTC c.1080
S K K N F Y F L E M N T R L Q | V E H P V p.360
. . . . . . g.217452
ACAGAATGCATTACTGGCCTGGACCTAGTCCAGGAAATGATCCGTGTTGCTAAGGGCTAC c.1140
T E C I T G L D L V Q E M I R V A K G Y p.380
. . . . . . g.217512
CCTCTCAGGCACAAACAAGCTGATATTCGCATCAACGGCTGGGCAGTTGAATGTCGGGTT c.1200
P L R H K Q A D I R I N G W A V E C R V p.400
| 14 . . . . . g.218892
TATGCTGAG | GACCCCTACAAGTCTTTTGGTTTACCATCTATTGGGAGATTGTCTCAGTAC c.1260
Y A E | D P Y K S F G L P S I G R L S Q Y p.420
. . | 15 . . . . g.223145
CAAGAACCGTTACATCTACCTGGT | GTCCGAGTGGACAGTGGCATCCAACCAGGAAGTGAT c.1320
Q E P L H L P G | V R V D S G I Q P G S D p.440
. . . | 16 . . . g.225777
ATTAGCATTTATTATGATCCTATGATTTCAAAA | CTAATCACATATGGCTCTGATAGAACT c.1380
I S I Y Y D P M I S K | L I T Y G S D R T p.460
. . . . | 17 . g.246489
GAGGCACTGAAGAGAATGGCAGATGCACTGGATAACTATGTTATTCGAG | GTGTTACACAT c.1440
E A L K R M A D A L D N Y V I R G | V T H p.480
. . . . . . g.246549
AATATTGCATTACTTCGAGAGGTGATAATCAACTCACGCTTTGTAAAAGGAGACATCAGC c.1500
N I A L L R E V I I N S R F V K G D I S p.500
. . . . | 18 . . g.256094
ACTAAATTTCTCTCCGATGTGTATCCTGATGGCTTCAAAG | GACACATGCTAACCAAGAGT c.1560
T K F L S D V Y P D G F K G | H M L T K S p.520
. . . . . . g.256154
GAGAAGAACCAGTTATTGGCAATAGCATCATCATTGTTTGTGGCATTCCAGTTAAGAGCA c.1620
E K N Q L L A I A S S L F V A F Q L R A p.540
. . | 19 . . . . g.284426
CAACATTTTCAAGAAAATTCAAG | AATGCCTGTTATTAAACCAGACATAGCCAACTGGGAG c.1680
Q H F Q E N S R | M P V I K P D I A N W E p.560
. . . . . . g.284486
CTCTCAGTAAAATTGCATGATAAAGTTCATACCGTAGTAGCATCAAACAATGGGTCAGTG c.1740
L S V K L H D K V H T V V A S N N G S V p.580
| 20 . . . . . . g.341604
TTCTCG | GTGGAAGTTGATGGGTCGAAACTAAATGTGACCAGCACGTGGAACCTGGCTTCG c.1800
F S | V E V D G S K L N V T S T W N L A S p.600
. . . . | 21 . . g.365184
CCCTTATTGTCTGTCAGCGTTGATGGCACTCAGAGGACTGTCCAG | TGTCTTTCTCGAGAA c.1860
P L L S V S V D G T Q R T V Q | C L S R E p.620
. . . | 22 . . g.431365
GCAGGTGGAAACATGAGCATTCAGTTTCTTGGTACAGTG | TACAAGGTGAATATCTTAACC c.1920
A G G N M S I Q F L G T V | Y K V N I L T p.640
. . . . . . g.431425
AGACTTGCCGCAGAATTGAACAAATTTATGCTGGAAAAAGTGACTGAGGACACAAGCAGT c.1980
R L A A E L N K F M L E K V T E D T S S p.660
. . . . . . g.431485
GTTCTGCGTTCCCCGATGCCCGGAGTGGTGGTGGCCGTCTCTGTCAAGCCTGGAGACGCG c.2040
V L R S P M P G V V V A V S V K P G D A p.680
| 23 . . . . . . g.443652
| GTAGCAGAAGGTCAAGAAATTTGTGTGATTGAAGCCATGAAAATGCAGAATAGTATGACA c.2100
| V A E G Q E I C V I E A M K M Q N S M T p.700
. | 24 . . . . g.446057
GCTGGGAAAACTGGCACG | GTGAAATCTGTGCACTGTCAAGCTGGAGACACAGTTGGAGAA c.2160
A G K T G T | V K S V H C Q A G D T V G E p.720
. . g.446084
GGGGATCTGCTCGTGGAGCTGGAATGA c.2187
G D L L V E L E X p.728
. . . . . . g.446144
aggatttataacctttcagtcatcacccaatttaattagccatttgcatgatgctttcac c.*60
. . . . . . g.446204
acacaattgattcaagcattatacaggaacacccctgtgcagctacgtttacgtcgtcat c.*120
. . . . . . g.446264
ttattccacagagtcaagaccaatattctgccaaaaaatcaccaatggaaattttcattg c.*180
. . . . . . g.446324
atataaatacttgtacatatgatttgtacttctgctgtgagattccctagtgtcaaaatt c.*240
. . . g.446355
aaatcaataaaactgagcatttgtctaaata c.*271
(downstream sequence)
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