(used for variant description)
(last modified June 12, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_003119.2 in the SPG7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008082.1, covering SPG7 transcript NM_003119.2.
(upstream sequence)
. . g.5021
aggcgcggctttcaggccaac c.-1
. . . . . . g.5081
ATGGCCGTGCTGCTGCTGCTGCTCCGTGCCCTCCGCCGGGGTCCAGGCCCGGGTCCTCGG c.60
M A V L L L L L R A L R R G P G P G P R p.20
. . . . . . g.5141
CCGCTGTGGGGCCCAGGCCCGGCCTGGAGTCCAGGGTTCCCCGCCAGGCCCGGGAGGGGG c.120
P L W G P G P A W S P G F P A R P G R G p.40
. . . . . . g.5201
CGGCCGTACATGGCCAGCAGGCCTCCGGGGGACCTCGCCGAGGCTGGAGGCCGAGCTCTG c.180
R P Y M A S R P P G D L A E A G G R A L p.60
| 02 . . . . . . g.7150
CAG | AGCTTACAATTGAGACTGCTAACCCCTACCTTTGAAGGGATCAACGGATTGTTGTTG c.240
Q | S L Q L R L L T P T F E G I N G L L L p.80
. . . . | 03 . . g.9565
AAACAACATTTAGTTCAGAATCCAGTCAGACTCTGGCAACTTTTAG | GTGGTACTTTCTAT c.300
K Q H L V Q N P V R L W Q L L G | G T F Y p.100
. . . . . . g.9625
TTTAACACCTCAAGGTTGAAGCAGAAGAATAAGGAGAAGGATAAGTCGAAGGGGAAGGCG c.360
F N T S R L K Q K N K E K D K S K G K A p.120
. | 04 . . . . . g.20653
CCTGAAGAGGACGAAG | AGGAGAGGAGACGCCGTGAGCGGGACGACCAGATGTACCGAGAG c.420
P E E D E E | E R R R R E R D D Q M Y R E p.140
. . . . . . g.20713
CGGCTGCGCACCTTGCTGGTCATCGCGGTTGTCATGAGCCTCCTGAATGCTCTCAGCACC c.480
R L R T L L V I A V V M S L L N A L S T p.160
. . . . . . g.20773
AGCGGAGGCAGCATTTCCTGGAACGACTTTGTCCACGAGATGCTGGCCAAGGGCGAGGTG c.540
S G G S I S W N D F V H E M L A K G E V p.180
. . . . . . g.20833
CAGCGCGTCCAGGTGGTGCCTGAGAGCGACGTGGTGGAAGTCTACCTGCACCCTGGAGCC c.600
Q R V Q V V P E S D V V E V Y L H P G A p.200
. | 05 . . . . g.22974
GTGGTGTTTGGGCGGCCT | CGGCTAGCCTTGATGTACCGAATGCAGGTTGCAAATATTGAC c.660
V V F G R P | R L A L M Y R M Q V A N I D p.220
. . . . . . g.23034
AAGTTTGAAGAGAAGCTTCGAGCAGCTGAAGATGAGCTGAATATCGAGGCCAAGGACAGG c.720
K F E E K L R A A E D E L N I E A K D R p.240
. . . | 06 . . g.26102
ATCCCAGTTTCCTACAAGCGAACAGGATTCTTTGGAAA | TGCCCTGTACTCTGTGGGGATG c.780
I P V S Y K R T G F F G N | A L Y S V G M p.260
. . . . . . g.26162
ACGGCAGTGGGCCTGGCCATCCTGTGGTATGTTTTCCGTCTGGCCGGGATGACTGGAAGG c.840
T A V G L A I L W Y V F R L A G M T G R p.280
. . | 07 . . . . g.27325
GAAGGTGGATTCAGTGCTTTT | AATCAGCTTAAAATGGCTCGTTTCACCATTGTGGATGGG c.900
E G G F S A F | N Q L K M A R F T I V D G p.300
. . . . . . g.27385
AAGATGGGGAAAGGAGTCAGCTTCAAAGACGTGGCAGGAATGCACGAAGCCAAACTGGAA c.960
K M G K G V S F K D V A G M H E A K L E p.320
. . | 08. . . . g.28540
GTCCGCGAGTTTGTGGATTATCTGAAG | AGCCCAGAACGCTTCCTCCAGCTTGGCGCCAAG c.1020
V R E F V D Y L K | S P E R F L Q L G A K p.340
. . . . . . g.28600
GTCCCAAAGGGCGCACTGCTGCTCGGCCCCCCCGGCTGTGGGAAGACGCTGCTGGCCAAG c.1080
V P K G A L L L G P P G C G K T L L A K p.360
. . . . . . g.28660
GCGGTGGCCACGGAGGCTCAGGTGCCCTTCCTGGCGATGGCCGGCCCAGAGTTCGTGGAG c.1140
A V A T E A Q V P F L A M A G P E F V E p.380
. | 09 . . . . . g.29116
GTCATTGGAG | GCCTCGGCGCTGCCCGTGTGCGGAGCCTCTTTAAGGAAGCCCGAGCCCGG c.1200
V I G G | L G A A R V R S L F K E A R A R p.400
. . . . . . g.29176
GCCCCCTGCATCGTCTACATCGATGAGATCGACGCGGTGGGCAAGAAGCGCTCCACCACC c.1260
A P C I V Y I D E I D A V G K K R S T T p.420
. . . . . . g.29236
ATGTCCGGCTTCTCCAACACGGAGGAGGAGCAGACGCTCAACCAGCTTCTGGTAGAAATG c.1320
M S G F S N T E E E Q T L N Q L L V E M p.440
| 10 . . . . . . g.41307
GATG | GAATGGGTACCACAGACCATGTCATCGTCCTGGCGTCCACGAACCGAGCTGACATT c.1380
D G | M G T T D H V I V L A S T N R A D I p.460
. . . . . . g.41367
TTGGACGGTGCTCTGATGAGGCCAGGCCGACTGGACCGGCACGTCTTCATTGATCTCCCC c.1440
L D G A L M R P G R L D R H V F I D L P p.480
| 11 . . . . . g.43312
ACGCTGCAG | GAGAGGCGGGAGATTTTTGAGCAGCACCTGAAGAGCCTGAAGCTGACCCAG c.1500
T L Q | E R R E I F E Q H L K S L K L T Q p.500
. . . . . | 12 . g.44614
TCCAGCACCTTTTACTCCCAGCGTCTGGCAGAGCTGACACCAGGATTCAGTG | GGGCTGAC c.1560
S S T F Y S Q R L A E L T P G F S G | A D p.520
. . . . . . g.44674
ATCGCCAACATCTGCAATGAGGCTGCGCTGCACGCGGCGCGGGAGGGACACACTTCCGTG c.1620
I A N I C N E A A L H A A R E G H T S V p.540
. . . . | 13 . . g.47114
CACACTCTCAACTTCGAGTACGCCGTGGAGCGCGTCCTCGCAG | GGACTGCCAAAAAGAGC c.1680
H T L N F E Y A V E R V L A G | T A K K S p.560
. . . . . . g.47174
AAGATCCTGTCCAAGGAAGAACAGAAAGTGGTTGCGTTTCATGAGTCGGGCCACGCCTTG c.1740
K I L S K E E Q K V V A F H E S G H A L p.580
. . . | 14 . . g.49603
GTGGGCTGGATGCTGGAGCACACGGAGGCCGTGATGAAG | GTCTCCATAACCCCTCGGACA c.1800
V G W M L E H T E A V M K | V S I T P R T p.600
. . . . . . g.49663
AACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAG c.1860
N A A L G F A Q M L P R D Q H L F T K E p.620
. . . . . . g.49723
CAGCTGTTTGAGCGGATGTGCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTC c.1920
Q L F E R M C M A L G G R A S E A L S F p.640
. | 15 . . . . . g.50441
AACGAGGTCACTTCTG | GGGCACAGGACGACCTGAGGAAGGTCACCCGCATCGCCTACTCC c.1980
N E V T S G | A Q D D L R K V T R I A Y S p.660
. . . . . . g.50501
ATGGTGAAGCAGTTTGGGATGGCACCTGGCATCGGGCCCATCTCCTTCCCTGAGGCGCAG c.2040
M V K Q F G M A P G I G P I S F P E A Q p.680
. . . . . . g.50561
GAGGGCCTCATGGGCATCGGGCGGCGCCCCTTCAGCCAAGGCCTGCAGCAGATGATGGAC c.2100
E G L M G I G R R P F S Q G L Q Q M M D p.700
| 16 . . . . . . g.51146
CAT | GAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACACACCGAGAAGGTGCTGCAGGAC c.2160
H | E A R L L V A K A Y R H T E K V L Q D p.720
. . | 17 . . . . g.53529
AACCTGGACAAGTTGCAGGCG | CTGGCAAACGCCCTTCTGGAAAAGGAAGTGATAAACTAT c.2220
N L D K L Q A | L A N A L L E K E V I N Y p.740
. . . . . . g.53589
GAGGACATTGAGGCTCTCATTGGCCCGCCGCCCCATGGGCCGAAGAAAATGATCGCACCG c.2280
E D I E A L I G P P P H G P K K M I A P p.760
. . . . . . g.53649
CAGAGGTGGATCGACGCCCAGAGGGAGAAACAGGACTTGGGCGAGGAGGAGACCGAAGAG c.2340
Q R W I D A Q R E K Q D L G E E E T E E p.780
. . . . g.53697
ACCCAGCAGCCTCCACTTGGAGGCGAAGAGCCGACTTGGCCCAAGTAG c.2388
T Q Q P P L G G E E P T W P K X p.795
. . . . . . g.53757
ttgggaggtgttggctgcacgtgcgggtggtccgggaagtgagggctcactcagccaccc c.*60
. . . . . . g.53817
tgagttgcttttcagctgaggtttgcacttcctctcgcggccctcagtagtccctgcaca c.*120
. . . . . . g.53877
gtgacttctgagatctgttgattgatgacccttttcatgattttaagtttctctgcagaa c.*180
. . . . . . g.53937
actactgacggagtcctgtgtttgtgagtcgtttcccctatggggaaggttatcagtgct c.*240
. . . . . . g.53997
tcccgagtgagcatggaacacttcgagttcccagggttatagacagtcgttcccagtgtg c.*300
. . . . . . g.54057
gctgaggccacccagaggcagcagagcattcagactccaaacagacccctgttcatgccg c.*360
. . . . . . g.54117
acgcttgcacgaccgccccagttcctgtggctccctcggaatgctaaggggatcggacat c.*420
. . . . . . g.54177
gaaaggaccctgtgagccgattgtcctatctccagcggccctgtcatccagctcactcat c.*480
. . . . . . g.54237
caatggggccagtcaggcccaggcactgggctccggaggactcaccactgccccctgctg c.*540
. . . . . . g.54297
ccatgtggactggtgcaagttgaggacttcttgctggtctagtcacgcatgcagtgttgg c.*600
. . . . . . g.54357
ggatgccttggtttttactgctctgagaattgttgagatactttactaataaactgtgta c.*660
. g.54370
gttggaaaatcta c.*673
(downstream sequence)
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