(used for variant description)
(last modified August 19, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_004168.2 in the SDHA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012339.1, covering SDHA transcript NM_004168.2.
(upstream sequence)
. . . . . g.5055
tccggcgtggtgcgcaggcgcggtatcccccctcccccgccagctcgaccccggt c.-61
. . . . . . g.5115
gtggtgcgcaggcgcagtctgcgcagggactggcgggactgcgcggcggcaacagcagac c.-1
. . . . . . g.5175
ATGTCGGGGGTCCGGGGCCTGTCGCGGCTGCTGAGCGCTCGGCGCCTGGCGCTGGCCAAG c.60
M S G V R G L S R L L S A R R L A L A K p.20
| 02 . . . . . . g.10298
GCG | TGGCCAACAGTGTTGCAAACAGGAACCCGAGGTTTTCACTTCACTGTTGATGGGAAC c.120
A | W P T V L Q T G T R G F H F T V D G N p.40
. . . | 03 . . . g.11149
AAGAGGGCATCTGCTAAAGTTTCAGATTCC | ATTTCTGCTCAGTATCCAGTAGTGGATCAT c.180
K R A S A K V S D S | I S A Q Y P V V D H p.60
. . . . . . g.11209
GAATTTGATGCAGTGGTGGTAGGCGCTGGAGGGGCAGGCTTGCGAGCTGCATTTGGCCTT c.240
E F D A V V V G A G G A G L R A A F G L p.80
. . . . . . g.11269
TCTGAGGCAGGGTTTAATACAGCATGTGTTACCAAGCTGTTTCCTACCAGGTCACACACT c.300
S E A G F N T A C V T K L F P T R S H T p.100
. | 04 . . . . . g.12226
GTTGCAGCACAG | GGAGGAATCAATGCTGCTCTGGGGAACATGGAGGAGGACAACTGGAGG c.360
V A A Q | G G I N A A L G N M E E D N W R p.120
. . . . . . g.12286
TGGCATTTCTACGACACCGTGAAGGGCTCCGACTGGCTGGGGGACCAGGATGCCATCCAC c.420
W H F Y D T V K G S D W L G D Q D A I H p.140
. . . | 05 . . . g.12666
TACATGACGGAGCAGGCCCCCGCCGCCGTGGTCGAG | CTAGAAAATTATGGCATGCCGTTT c.480
Y M T E Q A P A A V V E | L E N Y G M P F p.160
. . . . . . g.12726
AGCAGAACTGAAGATGGGAAGATTTATCAGCGTGCATTTGGTGGACAGAGCCTCAAGTTT c.540
S R T E D G K I Y Q R A F G G Q S L K F p.180
. . . . . . g.12786
GGAAAGGGCGGGCAGGCCCATCGGTGCTGCTGTGTGGCTGATCGGACTGGCCACTCGCTA c.600
G K G G Q A H R C C C V A D R T G H S L p.200
. . | 06 . . . . g.14983
TTGCACACCTTATATGGAAGG | TCTCTGCGATATGATACCAGCTATTTTGTGGAGTATTTT c.660
L H T L Y G R | S L R Y D T S Y F V E Y F p.220
. . . . . . g.15043
GCCTTGGATCTCCTGATGGAGAATGGGGAGTGCCGTGGTGTCATCGCACTGTGCATAGAG c.720
A L D L L M E N G E C R G V I A L C I E p.240
. . . . . | 07 . g.17645
GACGGGTCCATCCATCGCATAAGAGCAAAGAACACTGTTGTTGCCACAGG | AGGCTACGGG c.780
D G S I H R I R A K N T V V A T G | G Y G p.260
. . . . . . g.17705
CGCACCTACTTCAGCTGCACGTCTGCCCACACCAGCACTGGCGACGGCACGGCCATGATC c.840
R T Y F S C T S A H T S T G D G T A M I p.280
. . . . . | 08 . g.20241
ACCAGGGCAGGCCTTCCTTGCCAGGACCTAGAGTTTGTTCAGTTCCACCCTACAG | GCATA c.900
T R A G L P C Q D L E F V Q F H P T G | I p.300
. . . . . . g.20301
TATGGTGCTGGTTGTCTCATTACGGAAGGATGTCGTGGAGAGGGAGGCATTCTCATTAAC c.960
Y G A G C L I T E G C R G E G G I L I N p.320
. . . . . . g.20361
AGTCAAGGCGAAAGGTTTATGGAGCGATACGCCCCTGTCGCGAAGGACCTGGCGTCTAGA c.1020
S Q G E R F M E R Y A P V A K D L A S R p.340
. . . . | 09 . . g.21919
GATGTGGTGTCTCGGTCCATGACTCTGGAGATCCGAGAAGGAAG | AGGCTGTGGCCCTGAG c.1080
D V V S R S M T L E I R E G R | G C G P E p.360
. . . . . . g.21979
AAAGATCACGTCTACCTGCAGCTGCACCACCTACCTCCAGAGCAGCTGGCCACGCGCCTG c.1140
K D H V Y L Q L H H L P P E Q L A T R L p.380
. . . . . . g.22039
CCTGGCATTTCAGAGACAGCCATGATCTTCGCTGGCGTGGACGTCACGAAGGAGCCGATC c.1200
P G I S E T A M I F A G V D V T K E P I p.400
. . . . . . g.22099
CCTGTCCTCCCCACCGTGCATTATAACATGGGCGGCATTCCCACCAACTACAAGGGGCAG c.1260
P V L P T V H Y N M G G I P T N Y K G Q p.420
| 10 . . . . . . g.23247
| GTCCTGAGGCACGTGAATGGCCAGGATCAGATTGTGCCCGGCCTGTACGCCTGTGGGGAG c.1320
| V L R H V N G Q D Q I V P G L Y A C G E p.440
. . . . . . g.23307
GCCGCCTGTGCCTCGGTACATGGTGCCAACCGCCTCGGGGCAAACTCGCTCTTGGACCTG c.1380
A A C A S V H G A N R L G A N S L L D L p.460
. . . . . | 11 . g.27125
GTTGTCTTTGGTCGGGCATGTGCCCTGAGCATCGAAGAGTCATGCAGGCCTG | GAGATAAA c.1440
V V F G R A C A L S I E E S C R P G | D K p.480
. . . . . . g.27185
GTCCCTCCAATTAAACCAAACGCTGGGGAAGAATCTGTCATGAATCTTGACAAATTGAGA c.1500
V P P I K P N A G E E S V M N L D K L R p.500
. . . . . | 12 . g.37760
TTTGCTGATGGAAGCATAAGAACATCGGAACTGCGACTCAGCATGCAGAAG | TCAATGCAA c.1560
F A D G S I R T S E L R L S M Q K | S M Q p.520
. . . . . . g.37820
AATCATGCTGCCGTGTTCCGTGTGGGAAGCGTGTTGCAAGAAGGTTGTGGGAAAATCAGC c.1620
N H A A V F R V G S V L Q E G C G K I S p.540
. . . . | 13 . . g.38114
AAGCTCTATGGAGACCTAAAGCACCTGAAGACGTTCGACCGGG | GAATGGTCTGGAACACG c.1680
K L Y G D L K H L K T F D R G | M V W N T p.560
. . . . . . g.38174
GACCTGGTGGAGACCCTGGAGCTGCAGAACCTGATGCTGTGTGCGCTGCAGACCATCTAC c.1740
D L V E T L E L Q N L M L C A L Q T I Y p.580
. . . . . | 14 . g.41158
GGAGCAGAGGCACGGAAGGAGTCACGGGGCGCGCATGCCAGGGAAGACTACAAG | GTGCGG c.1800
G A E A R K E S R G A H A R E D Y K | V R p.600
. . . . . . g.41218
ATTGATGAGTACGATTACTCCAAGCCCATCCAGGGGCAACAGAAGAAGCCCTTTGAGGAG c.1860
I D E Y D Y S K P I Q G Q Q K K P F E E p.620
. . . . | 15 . g.43105
CACTGGAGGAAGCACACCCTGTCCTATGTGGACGTTGGCACTGGGAAG | GTCACTCTGGAA c.1920
H W R K H T L S Y V D V G T G K | V T L E p.640
. . . . . . g.43165
TATAGACCCGTGATCGACAAAACTTTGAACGAGGCTGACTGTGCCACCGTCCCGCCAGCC c.1980
Y R P V I D K T L N E A D C A T V P P A p.660
. g.43180
ATTCGCTCCTACTGA c.1995
I R S Y X p.664
. . . . . . g.43240
tgagacaagatgtggtgatgacagaatcagcttttgtaattatgtataatagctcatgca c.*60
. . . . . . g.43300
tgtgtccatgtcataactgtcttcatacgcttctgcactctggggaagaaggagtacatt c.*120
. . . . . . g.43360
gaagggagattggcacctagtggctgggagcttgccaggaacccagtggccagggagcgt c.*180
. . . . . . g.43420
ggcacttacctttgtcccttgcttcattcttgtgagatgataaaactgggcacagctctt c.*240
. . . . g.43460
aaataaaatataaatgaacaaactttcttttatttccaaa c.*280
(downstream sequence)
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