(used for variant description)
(last modified November 29, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_018149.6 in the SMG8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering SMG8 transcript NM_018149.6.
(upstream sequence)
. . . . g.5042
tttactaacggaccggaaggactctagagaacgctctgcact c.-1
. . . . . . g.5102
ATGGCTGGTCCCGTGAGCTTGCGAGACCTTCTAATGGGAGCATCAGCCTGGATGGGCTCT c.60
M A G P V S L R D L L M G A S A W M G S p.20
. . . . . . g.5162
GAAAGTCCCGGAGGGTCCCCTACTGAGGGCGGAGGGAGCGCGGCTGGCGGACCGGAGCCT c.120
E S P G G S P T E G G G S A A G G P E P p.40
. . . . . . g.5222
CCATGGCGGGAGGATGAGATCTGCGTTGTGGGAATCTTCGGCAAGACGGCTCTACGCCTG c.180
P W R E D E I C V V G I F G K T A L R L p.60
. . . . . . g.5282
AATTCCGAGAAGTTCTCTCTTGTGAATACGGTGTGCGACCGACAGGTCTTTCCTCTCTTT c.240
N S E K F S L V N T V C D R Q V F P L F p.80
. . . . . . g.5342
CGCCACCAAGATCCTGGGGATCCAGGACCTGGAATCAGAACTGAGGCTGGCGCCGTGGGT c.300
R H Q D P G D P G P G I R T E A G A V G p.100
. . . . . . g.5402
GAGGCCGGTGGAGCCGAGGACCCTGGGGCTGCAGCCGGGGGTTCAGTTCGGGGAAGTGGA c.360
E A G G A E D P G A A A G G S V R G S G p.120
. . . . . . g.5462
GCTGTCGCGGAAGGTAACCGAACTGAGGCAGGCTCCCAGGACTACAGCCTTCTGCAGGCC c.420
A V A E G N R T E A G S Q D Y S L L Q A p.140
. . . . . . g.5522
TACTACAGTCAGGAAAGCAAAGTTCTGTATCTTCTCCTCACCTCCATCTGTGACAATTCA c.480
Y Y S Q E S K V L Y L L L T S I C D N S p.160
. . . . . . g.5582
CAGCTTCTCCGGGCTTGTCGGGCTCTTCAGAGCGGGGAAGCTGGAGGTGGACTCTCTTTA c.540
Q L L R A C R A L Q S G E A G G G L S L p.180
. . . . . . g.5642
CCTCATGCAGAAGCACACGAGTTCTGGAAGCATCAAGAGAAGCTGCAGTGCCTCAGTCTC c.600
P H A E A H E F W K H Q E K L Q C L S L p.200
. . . . . . g.5702
CTTTACCTATTCTCTGTCTGTCATATCTTGCTTCTGGTCCATCCCACTTGTTCCTTTGAT c.660
L Y L F S V C H I L L L V H P T C S F D p.220
. . . . . . g.5762
ATCACTTATGATCGAGTATTCAGAGCCCTGGATGGGCTGAGACAGAAGGTCCTGCCGCTC c.720
I T Y D R V F R A L D G L R Q K V L P L p.240
. . . . . . g.5822
CTTAAAACAGCCATTAAGGATTGTCCAGTTGGCAAAGACTGGAAGCTAAACTGCCGACCT c.780
L K T A I K D C P V G K D W K L N C R P p.260
. . . . . . g.5882
TGCCCACCTAGACTCCTTTTCCTCTTTCAACTCAATGGAGCCCTCAAGGTAGAACCTCCT c.840
C P P R L L F L F Q L N G A L K V E P P p.280
. . . . . . g.5942
CGGAACCAAGACCCAGCTCATCCAGACAAGCCCAAGAAACATTCTCCCAAAAGGAGGCTG c.900
R N Q D P A H P D K P K K H S P K R R L p.300
. . . . . . g.6002
CAGCATGCCCTGGAGGACCAGATCTATAGAATCTTCCGGAAGAGTCGTGTCTTGACTAAT c.960
Q H A L E D Q I Y R I F R K S R V L T N p.320
. . . . . . g.6062
CAGAGCATCAACTGCCTCTTTACTGTGCCTGCCAACCAAGCTTTCGTGTACATAGTACCG c.1020
Q S I N C L F T V P A N Q A F V Y I V P p.340
. . . . . . g.6122
GGAAGCCAGGAGGAGGACCCAGTAGGTATGTTGCTGGACCAACTTAGGAGTCATTGTACT c.1080
G S Q E E D P V G M L L D Q L R S H C T p.360
. . . . . . g.6182
GTGAAGGACCCGGAATCTTTGCTGGTGCCTGCACCCCTTTCTGGGCCTAGGCGATACCAG c.1140
V K D P E S L L V P A P L S G P R R Y Q p.380
. . . . . . g.6242
GTGATGAGGCAGCACAGCCGACAACAACTTTCCTTTCACATTGACAGCAGCAGTTCCAGT c.1200
V M R Q H S R Q Q L S F H I D S S S S S p.400
. . . . . . g.6302
TCTTCAGGCCAGCTAGTGGATTTCACTCTTCGGGAATTCCTATGGCAGCATGTGGAGCTA c.1260
S S G Q L V D F T L R E F L W Q H V E L p.420
. . . . . . g.6362
GTTCTAAGCAAGAAAGGTTTCGATGACAGTGTGGGCAGGAACCCACAGCCTTCCCATTTT c.1320
V L S K K G F D D S V G R N P Q P S H F p.440
. . . . . . g.6422
GAACTTCCTACTTATCAGAAGTGGATCTCAGCAGCTTCAAAACTGTATGAGGTGGCTATT c.1380
E L P T Y Q K W I S A A S K L Y E V A I p.460
. . . . . . g.6482
GATGGGAAAGAAGAGGACTTGGGGTCACCCACTGGAGAGCTAACATCTAAGATTTTAAGC c.1440
D G K E E D L G S P T G E L T S K I L S p.480
. . . . . . g.6542
AGTATTAAAGTCTTGGAAGGATTTTTGGATATTGACACAAAATTCTCAGAAAACCGATGC c.1500
S I K V L E G F L D I D T K F S E N R C p.500
. . . . . . g.6602
CAAAAAGCTTTACCCATGGCCCACAGTGCCTACCAGTCAAATTTGCCTCATAATTACACA c.1560
Q K A L P M A H S A Y Q S N L P H N Y T p.520
. . . . . . g.6662
ATGACTGTCCATAAGAATCAGCTTGCCCAGGCTCTTCGAGTGTACAGTCAACATGCTAGA c.1620
M T V H K N Q L A Q A L R V Y S Q H A R p.540
. . . . . . g.6722
GGTCCAGCATTTCACAAATACGCCATGCAGTTACATGAGGACTGCTACAAATTTTGGAGC c.1680
G P A F H K Y A M Q L H E D C Y K F W S p.560
. . . . . . g.6782
AATGGCCATCAGCTCTGTGAGGAGAGGAGTTTAACTGATCAACACTGTGTGCACAAATTT c.1740
N G H Q L C E E R S L T D Q H C V H K F p.580
. | 02 . . . . g.7372
CACTCATTACCTAAATCAG | GAGAAAAACCAGAGGCTGATAGAAATCCGCCTGTGCTATAT c.1800
H S L P K S G | E K P E A D R N P P V L Y p.600
. . . . . . g.7432
CACAATAGCCGAGCTCGATCTACTGGTGCTTGCAACTGTGGAAGGAAACAAGCACCTCGA c.1860
H N S R A R S T G A C N C G R K Q A P R p.620
. . . . | 03 . . g.7734
GATGATCCCTTTGATATCAAAGCAGCCAATTATGACTTCTATCAG | CTTCTGGAAGAAAAG c.1920
D D P F D I K A A N Y D F Y Q | L L E E K p.640
. . . . . . g.7794
TGTTGTGGAAAATTGGATCATATCAATTTCCCAGTATTTGAACCAAGTACTCCAGATCCT c.1980
C C G K L D H I N F P V F E P S T P D P p.660
. . . . . . g.7854
GCTCCTGCTAAAAATGAATCCTCTCCTGCTCCTCCAGATTCGGATGCTGATAAACTTAAA c.2040
A P A K N E S S P A P P D S D A D K L K p.680
. . . . . . g.7914
GAAAAAGAACCTCAAACCCAAGGAGAGAGCACGAGCCTGAGTTTAGCTTTGAGTTTGGGC c.2100
E K E P Q T Q G E S T S L S L A L S L G p.700
. . . . . . g.7974
CAATCCACAGATAGCTTAGGTACCTATCCAGCTGATCCACAAGCAGGAGGAGATAATCCA c.2160
Q S T D S L G T Y P A D P Q A G G D N P p.720
. . . . . . g.8034
GAAGTTCATGGTCAAGTAGAAGTGAAAACTGAGAAGAGGCCAAACTTCGTTGATCGACAG c.2220
E V H G Q V E V K T E K R P N F V D R Q p.740
. . . . . . g.8094
GCATCCACAGTTGAGTATCTCCCAGGCATGCTACATTCAAATTGCCCTAAAGGTCTCCTA c.2280
A S T V E Y L P G M L H S N C P K G L L p.760
. . . . . . g.8154
CCCAAATTCTCCAGCTGGTCTTTGGTTAAACTAGGCCCTGCTAAGTCTTATAACTTTCAT c.2340
P K F S S W S L V K L G P A K S Y N F H p.780
. . . . . . g.8214
ACAGGTTTGGACCAACAGGGCTTTATTCCAGGAACAAATTATCTTATGCCTTGGGACATT c.2400
T G L D Q Q G F I P G T N Y L M P W D I p.800
. . . . . . g.8274
GTCATCAGGACTAGAGCTGAAGATGAAGGAGACTTAGACACAAACTCTTGGCCTGCTCCA c.2460
V I R T R A E D E G D L D T N S W P A P p.820
. . . . . . g.8334
AATAAAGCTATTCCTGGAAAGAGAAGTGCGGTTGTAATGGGAAGAGGAAGACGGCGAGAT c.2520
N K A I P G K R S A V V M G R G R R R D p.840
. . . . . . g.8394
GACATAGCTCGAGCTTTTGTGGGCTTTGAATATGAAGACTCTCGAGGTCGGAGATTCATG c.2580
D I A R A F V G F E Y E D S R G R R F M p.860
. . . . . . g.8454
TGCTCTGGGCCTGACAAAGTAATGAAAGTAATGGGAAGTGGGCCAAAGGAATCAGCTTTA c.2640
C S G P D K V M K V M G S G P K E S A L p.880
. . . . . . g.8514
AAAGCCCTAAATAGTGACATGCCCTTATATATTCTGTCATCCTCTCAAGGTAGAGGGCTG c.2700
K A L N S D M P L Y I L S S S Q G R G L p.900
. . . . . . g.8574
AAACCTCATTATGCTCAACTTATGAGGCTTTTTGTTGTGGTTCCTGATGCTCCTTTGCAG c.2760
K P H Y A Q L M R L F V V V P D A P L Q p.920
. | 04 . . . . g.9837
ATAATACTAATGCCTCAG | GTTCAGCCAGGCCCACCACCATGTCCGGTATTCTACCCAGAA c.2820
I I L M P Q | V Q P G P P P C P V F Y P E p.940
. . . . . . g.9897
AAACAAGAAATCACCCTTCCACCTGATGGCCTTTGGGTTTTGAGATTTCCTTATGCATAT c.2880
K Q E I T L P P D G L W V L R F P Y A Y p.960
. . . . . . g.9957
GTGACTGAGAGAGGACCTTGTTTCCCCCCTAAGGAAAATGTGCAGTTAATGAGCTACAAG c.2940
V T E R G P C F P P K E N V Q L M S Y K p.980
. . . g.9993
GTGCTCCGTGGGGTTCTTAAGGCAGTAACACAATAA c.2976
V L R G V L K A V T Q X p.991
. . . . . . g.10053
gtgttttccagccagttcaatcctatacttgagctggtttttgtttttggtatttgtggc c.*60
. . . . . . g.10113
tgtgtttttggtatgtgtttactgtgttttcccaaatccaaaatgtgttttggttacagg c.*120
. . . . . . g.10173
agttcagtatttggaaactaatttgttctactttttcattatattgttgatatttattgt c.*180
. . . . . . g.10233
aaacgtgactacaactttctaataaagattggttgttctagaaaagaatataaaatacat c.*240
g.10241
ggatgata c.*248
(downstream sequence)
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