(used for variant description)
(last modified February 2, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_003850.2 in the SUCLA2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000013.10, covering SUCLA2 transcript NM_003850.2.
(upstream sequence)
. . . . . g.5057
ccgcctgtcgcctgtgcgcctgcgcgcggcgccgaggggacggggtccgactcagaa c.-1
. . . . . . g.5117
ATGGCGGCCTCCATGTTCTACGGCAGGCTAGTGGCCGTGGCCACCCTTCGGAACCACCGG c.60
M A A S M F Y G R L V A V A T L R N H R p.20
. . . | 02 . . . g.9334
CCTCGGACGGCCCAGCGGGCTGCTGCTCAG | GTTCTGGGAAGTTCTGGATTGTTTAATAAC c.120
P R T A Q R A A A Q | V L G S S G L F N N p.40
. . . . . . g.9394
CATGGACTCCAAGTACAGCAGCAACAGCAAAGGAATCTCTCACTACATGAATACATGAGT c.180
H G L Q V Q Q Q Q Q R N L S L H E Y M S p.60
. . . . . . g.9454
ATGGAATTATTGCAAGAAGCTGGTGTCTCCGTTCCCAAAGGATATGTGGCAAAGTCACCA c.240
M E L L Q E A G V S V P K G Y V A K S P p.80
. . . | 03 . . . g.17375
GATGAAGCTTATGCAATTGCCAAAAAATTAG | GTTCAAAAGATGTCGTGATAAAGGCACAG c.300
D E A Y A I A K K L G | S K D V V I K A Q p.100
. . . . . . g.17435
GTTTTAGCTGGTGGTAGAGGAAAAGGAACATTTGAAAGTGGCCTCAAAGGAGGAGTGAAG c.360
V L A G G R G K G T F E S G L K G G V K p.120
. | 04 . . . . . g.17673
ATAGTTTTCTC | TCCAGAAGAAGCAAAAGCTGTTTCTTCACAAATGATTGGGAAAAAATTG c.420
I V F S | P E E A K A V S S Q M I G K K L p.140
. . . . . . g.17733
TTTACCAAGCAAACGGGAGAAAAGGGCAGAATATGCAATCAAGTATTGGTCTGTGAGCGA c.480
F T K Q T G E K G R I C N Q V L V C E R p.160
. . . . . | 05 . g.32941
AAATATCCCAGGAGAGAATACTACTTTGCAATAACAATGGAAAGGTCATTTCAA | GGTCCT c.540
K Y P R R E Y Y F A I T M E R S F Q | G P p.180
. . . . . . g.33001
GTATTAATAGGAAGTTCACATGGTGGTGTCAACATTGAAGATGTTGCTGCTGAGTCTCCT c.600
V L I G S S H G G V N I E D V A A E S P p.200
. . . . . . g.33061
GAAGCAATAATTAAAGAACCTATTGATATTGAAGAAGGCATCAAAAAGGAACAAGCTCTC c.660
E A I I K E P I D I E E G I K K E Q A L p.220
| 06 . . . . . . g.37651
CAG | CTTGCACAGAAGATGGGATTTCCACCTAATATTGTGGAATCAGCAGCAGAAAACATG c.720
Q | L A Q K M G F P P N I V E S A A E N M p.240
. . . . . . g.37711
GTCAAGCTTTACAGCCTTTTTCTGAAATACGATGCAACCATGATAGAAATAAATCCAATG c.780
V K L Y S L F L K Y D A T M I E I N P M p.260
. . | 07 . . . . g.51808
GTGGAAGATTCAGATGGAGCTG | TATTGTGTATGGATGCAAAGATCAATTTTGACTCTAAT c.840
V E D S D G A V | L C M D A K I N F D S N p.280
. . . . . . g.51868
TCAGCCTATCGCCAAAAGAAAATCTTTGATCTACAGGACTGGACCCAGGAAGATGAAAGG c.900
S A Y R Q K K I F D L Q D W T Q E D E R p.300
. . . . . . g.51928
GACAAAGATGCTGCTAAGGCAAATCTCAACTACATTGGCCTCGATGGAAATATAGGCTGC c.960
D K D A A K A N L N Y I G L D G N I G C p.320
| 08 . . . . . . g.52101
CTAG | TAAATGGTGCTGGTTTGGCTATGGCCACAATGGATATAATAAAACTTCATGGAGGG c.1020
L V | N G A G L A M A T M D I I K L H G G p.340
. . . . . . g.52161
ACTCCAGCCAACTTCCTTGATGTTGGTGGTGGTGCTACAGTCCATCAAGTAACAGAAGCA c.1080
T P A N F L D V G G G A T V H Q V T E A p.360
. . | 09. . . . g.56757
TTTAAGCTTATCACTTCAGATAAAAAG | GTACTGGCTATTCTGGTCAACATTTTTGGAGGA c.1140
F K L I T S D K K | V L A I L V N I F G G p.380
. . . . . . g.56817
ATCATGCGCTGTGATGTTATTGCACAGGGTATAGTCATGGCAGTAAAAGACTTGGAAATT c.1200
I M R C D V I A Q G I V M A V K D L E I p.400
. . | 10 . . . g.57331
AAAATACCTGTTGTGGTACGGTTACAAG | GTACACGAGTCGATGATGCTAAGGCACTGATA c.1260
K I P V V V R L Q G | T R V D D A K A L I p.420
. . . . . | 11. g.62885
GCGGACAGTGGACTTAAAATACTTGCTTGTGATGACTTGGATGAAGCTGCTAGAATG | GTT c.1320
A D S G L K I L A C D D L D E A A R M | V p.440
. . . . . . g.62945
GTAAAGCTCTCTGAAATAGTGACCTTAGCGAAGCAAGCACATGTGGATGTGAAATTTCAG c.1380
V K L S E I V T L A K Q A H V D V K F Q p.460
. g.62957
TTGCCAATATGA c.1392
L P I X p.463
. . . . . . g.63017
tctgaaaacccagtggatggctgaaggtgttaaatgtgctataatcattaagaatactgt c.*60
. . . . . . g.63077
gttctgtgttattgttctttttctttttagtgtgtggagattgtaattgccatctaggca c.*120
. . . . . . g.63137
cacaaacatttaaaaggatttggactgcatttaattgtaccattcagaatggactgtttg c.*180
. . . . . . g.63197
tacgaagcatgtataatgcagttatcttctttcttttgtcgcagccagtcttttttgctt c.*240
. . . . . . g.63257
ctcctacaaaacgtaacttgcaatttgccagtttattattgttggatacaaagttcttca c.*300
. . . . . . g.63317
ttgataagagtcctataaataagataaatacgaagataaagctttattctttagtgttaa c.*360
. . . . . . g.63377
aatacagtatatctaataactagcctcattagtagagcagtatattaaaacaatgtttta c.*420
. . . . . . g.63437
tgtaaaaagtgtttatcttcagcaccaaatacatgataaatgtatcaatcactatttata c.*480
. . . . . . g.63497
aacagagctttcaaacactcctcagaatattcttctaagtattttgatgaagtaactttg c.*540
. . . . . . g.63557
taattatttgaacattgttttaatcattaggaaacactgattaactgcaagtcttcatga c.*600
. . . . . . g.63617
ttctgtcatattaagaaacacctgtaggtttgcttcaaataaaggcatatataccaagga c.*660
. . . . . g.63672
cttacagacaaaattaagaatgtcaatttaagttaataaaaatctcccaatatga c.*715
(downstream sequence)
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