(used for variant description)
(last modified June 26, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_002693.2 in the POLG gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008218.1, covering POLG transcript NM_002693.2.
(upstream sequence)
. . . . g.5042
gcggaccggccgggtggaggccacacgctaccccgaggctgc c.-241
. . . . . . g.5102
gtaggccgcgcgaagggggacgccgtgccgtgggcctggggtcgggggagcagcagaccg c.-181
. . . | 02 . . . g.5921
ggaagcaccgtgaggaccgag | gatttggggtggaaggcaggcatggtcaaacccatttca c.-121
. . . . . . g.5981
ctgacaggagagcagagacaggacgtgtctctctccacgtcttccagccagtaaaagaag c.-61
. . . . . . g.6041
ccaagctggagcccaaagccaggtgttctgactcccagcgtgggggtccctgcaccaacc c.-1
. . . . . . g.6101
ATGAGCCGCCTGCTCTGGAGGAAGGTGGCCGGCGCCACCGTCGGGCCAGGGCCGGTTCCA c.60
M S R L L W R K V A G A T V G P G P V P p.20
. . . . . . g.6161
GCTCCGGGGCGCTGGGTCTCCAGCTCCGTCCCCGCGTCCGACCCCAGCGACGGGCAGCGG c.120
A P G R W V S S S V P A S D P S D G Q R p.40
. . . . . . g.6221
CGGCGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCCTCAGCAGCCGCAA c.180
R R Q Q Q Q Q Q Q Q Q Q Q Q Q P Q Q P Q p.60
. . . . . . g.6281
GTGCTATCCTCGGAGGGCGGGCAGCTGCGGCACAACCCATTGGACATCCAGATGCTCTCG c.240
V L S S E G G Q L R H N P L D I Q M L S p.80
. . . . . . g.6341
AGAGGGCTGCACGAGCAAATCTTCGGGCAAGGAGGGGAGATGCCTGGCGAGGCCGCGGTG c.300
R G L H E Q I F G Q G G E M P G E A A V p.100
. . . . . . g.6401
CGCCGCAGCGTCGAGCACCTGCAGAAGCACGGGCTCTGGGGGCAGCCAGCCGTGCCCTTG c.360
R R S V E H L Q K H G L W G Q P A V P L p.120
. . . . . . g.6461
CCCGACGTGGAGCTGCGCCTGCCGCCCCTCTACGGGGACAACCTGGACCAGCACTTCCGC c.420
P D V E L R L P P L Y G D N L D Q H F R p.140
. . . . . . g.6521
CTCCTGGCCCAGAAGCAGAGCCTGCCCTACCTGGAGGCGGCCAACTTGCTGTTGCAGGCC c.480
L L A Q K Q S L P Y L E A A N L L L Q A p.160
. . . . . . g.6581
CAGCTGCCCCCGAAGCCCCCGGCTTGGGCCTGGGCGGAGGGCTGGACCCGGTACGGCCCC c.540
Q L P P K P P A W A W A E G W T R Y G P p.180
. . . . . . g.6641
GAGGGGGAGGCCGTACCCGTGGCCATCCCCGAGGAGCGGGCCCTGGTGTTCGACGTGGAG c.600
E G E A V P V A I P E E R A L V F D V E p.200
. . . . . | 03 g.9520
GTCTGCTTGGCAGAGGGAACTTGCCCCACATTGGCGGTGGCCATATCCCCCTCGGCCTG | G c.660
V C L A E G T C P T L A V A I S P S A W | p.220
. . . . . . g.9580
TATTCCTGGTGCAGCCAGCGGCTGGTGGAAGAGCGTTACTCTTGGACCAGCCAGCTGTCG c.720
Y S W C S Q R L V E E R Y S W T S Q L S p.240
. . . . . . g.9640
CCGGCTGACCTCATCCCCCTGGAGGTCCCTACTGGTGCCAGCAGCCCCACCCAGAGAGAC c.780
P A D L I P L E V P T G A S S P T Q R D p.260
. . . . . . g.9700
TGGCAGGAGCAGTTAGTGGTGGGGCACAATGTTTCCTTTGACCGAGCTCATATCAGGGAG c.840
W Q E Q L V V G H N V S F D R A H I R E p.280
. | 04 . . . . . g.10730
CAGTACCTGATCCAG | GGTTCCCGCATGCGTTTCCTGGACACCATGAGCATGCACATGGCC c.900
Q Y L I Q | G S R M R F L D T M S M H M A p.300
. . . . . . g.10790
ATCTCAGGGCTAAGCAGCTTCCAGCGCAGTCTGTGGATAGCAGCCAAGCAGGGCAAACAC c.960
I S G L S S F Q R S L W I A A K Q G K H p.320
. . . . . . g.10850
AAGGTCCAGCCCCCCACAAAGCAAGGCCAGAAGTCCCAGAGGAAAGCCAGAAGAGGCCCA c.1020
K V Q P P T K Q G Q K S Q R K A R R G P p.340
| 05 . . . . . . g.11021
GCG | ATCTCATCCTGGGACTGGCTGGACATCAGCAGTGTCAACAGTCTGGCAGAGGTGCAC c.1080
A | I S S W D W L D I S S V N S L A E V H p.360
. . . . . . g.11081
AGACTTTATGTAGGGGGGCCTCCCTTAGAGAAGGAGCCTCGAGAACTGTTTGTGAAGGGC c.1140
R L Y V G G P P L E K E P R E L F V K G p.380
. . . | 06 . . . g.11290
ACCATGAAGGACATTCGTGAGAACTTCCAG | GACCTGATGCAGTACTGTGCCCAGGACGTG c.1200
T M K D I R E N F Q | D L M Q Y C A Q D V p.400
. . . . . | 07 . g.12456
TGGGCCACCCATGAGGTTTTCCAGCAGCAGCTACCGCTCTTCTTGGAGAG | GTGTCCCCAC c.1260
W A T H E V F Q Q Q L P L F L E R | C P H p.420
. . . . . . g.12516
CCAGTGACTCTGGCCGGCATGCTGGAGATGGGTGTCTCCTACCTGCCTGTCAACCAGAAC c.1320
P V T L A G M L E M G V S Y L P V N Q N p.440
. . . . . . g.12576
TGGGAGCGTTACCTGGCAGAGGCACAGGGCACTTATGAGGAGCTCCAGCGGGAGATGAAG c.1380
W E R Y L A E A Q G T Y E E L Q R E M K p.460
. . . . . | 08 . g.12739
AAGTCGTTGATGGATCTGGCCAATGATGCCTGCCAGCTGCTCTCAGGAGAGAG | GTACAAA c.1440
K S L M D L A N D A C Q L L S G E R | Y K p.480
. . . . . . g.12799
GAAGACCCCTGGCTCTGGGACCTGGAGTGGGACCTGCAAGAATTTAAGCAGAAGAAAGCT c.1500
E D P W L W D L E W D L Q E F K Q K K A p.500
. . . . . . g.12859
AAGAAGGTGAAGAAGGAACCAGCCACAGCCAGCAAGTTGCCCATCGAGGGGGCTGGGGCC c.1560
K K V K K E P A T A S K L P I E G A G A p.520
. . | 09 . . . . g.13092
CCTGGTGATCCCATGGATCAGGAAG | ACCTCGGCCCCTGCAGTGAGGAGGAGGAGTTTCAA c.1620
P G D P M D Q E D | L G P C S E E E E F Q p.540
. . . . . . g.13152
CAAGATGTCATGGCCCGCGCCTGCTTGCAGAAGCTGAAGGGGACCACAGAGCTCCTGCCC c.1680
Q D V M A R A C L Q K L K G T T E L L P p.560
. . . | 10 . . . g.14137
AAGCGGCCCCAGCACCTTCCTGGACACCCTGG | ATGGTACCGGAAGCTCTGCCCCCGGCTA c.1740
K R P Q H L P G H P G | W Y R K L C P R L p.580
. . . . . . g.14197
GACGACCCTGCATGGACCCCGGGCCCCAGCCTCCTCAGCCTGCAGATGCGGGTCACACCT c.1800
D D P A W T P G P S L L S L Q M R V T P p.600
. . . . . . g.14257
AAACTCATGGCACTTACCTGGGATGGCTTCCCTCTGCACTACTCAGAGCGTCATGGCTGG c.1860
K L M A L T W D G F P L H Y S E R H G W p.620
. . . . . . g.14317
GGCTACTTGGTGCCTGGGCGGCGGGACAACCTGGCCAAGCTGCCGACAGGTACCACCCTG c.1920
G Y L V P G R R D N L A K L P T G T T L p.640
. . | 11 . . . g.15599
GAGTCAGCTGGGGTGGTCTGCCCCTACAG | AGCCATCGAGTCCCTGTACAGGAAGCACTGT c.1980
E S A G V V C P Y R | A I E S L Y R K H C p.660
. . . . . . g.15659
CTCGAACAGGGGAAGCAGCAGCTGATGCCCCAGGAGGCCGGCCTGGCGGAGGAGTTCCTG c.2040
L E Q G K Q Q L M P Q E A G L A E E F L p.680
. . . | 12 . . . g.15924
CTCACTGACAATAGTGCCATATGGCAAACG | GTAGAAGAACTGGATTACTTAGAAGTGGAG c.2100
L T D N S A I W Q T | V E E L D Y L E V E p.700
. . . . . | 13. g.16287
GCTGAGGCCAAGATGGAGAACTTGCGAGCTGCAGTGCCAGGTCAACCCCTAGCTCTG | ACT c.2160
A E A K M E N L R A A V P G Q P L A L | T p.720
. . . . . . g.16347
GCCCGTGGTGGCCCCAAGGACACCCAGCCCAGCTATCACCATGGCAATGGACCTTACAAC c.2220
A R G G P K D T Q P S Y H H G N G P Y N p.740
. . . . | 14 . . g.16908
GACGTGGACATCCCTGGCTGCTGGTTTTTCAAGCTGCCTCACAAG | GATGGTAATAGCTGT c.2280
D V D I P G C W F F K L P H K | D G N S C p.760
. . . . . . g.16968
AATGTGGGAAGCCCCTTTGCCAAGGACTTCCTGCCCAAGATGGAGGATGGCACCCTGCAG c.2340
N V G S P F A K D F L P K M E D G T L Q p.780
. . . . . . g.17028
GCTGGCCCAGGAGGTGCCAGTGGGCCCCGTGCTCTGGAAATCAACAAAATGATTTCTTTC c.2400
A G P G G A S G P R A L E I N K M I S F p.800
. . | 15 . . . . g.17814
TGGAGGAACGCCCATAAACGTATCAG | CTCCCAGATGGTGGTGTGGCTGCCCAGGTCAGCT c.2460
W R N A H K R I S | S Q M V V W L P R S A p.820
. . | 16 . . . . g.17982
CTGCCCCGTGCTGTGATCAG | GCACCCCGACTATGATGAGGAAGGCCTCTATGGGGCCATC c.2520
L P R A V I R | H P D Y D E E G L Y G A I p.840
. . . . . . g.18042
CTGCCCCAAGTGGTGACTGCCGGCACCATCACTCGCCGGGCTGTGGAGCCCACATGGCTC c.2580
L P Q V V T A G T I T R R A V E P T W L p.860
. | 17 . . . . g.18577
ACCGCCAGCAATGCCCGG | CCTGACCGAGTAGGCAGTGAGTTGAAAGCCATGGTGCAGGCC c.2640
T A S N A R | P D R V G S E L K A M V Q A p.880
. . . . . . g.18637
CCACCTGGCTACACCCTTGTGGGTGCTGATGTGGACTCCCAAGAGCTGTGGATTGCAGCT c.2700
P P G Y T L V G A D V D S Q E L W I A A p.900
. . . | 18 . . . g.18809
GTGCTTGGAGACGCCCACTTTGCCGGCATGCATG | GCTGCACAGCCTTTGGGTGGATGACA c.2760
V L G D A H F A G M H G | C T A F G W M T p.920
. . . . . . g.18869
CTGCAGGGCAGGAAGAGCAGGGGCACTGATCTACACAGTAAGACAGCCACTACTGTGGGC c.2820
L Q G R K S R G T D L H S K T A T T V G p.940
. . . . . . g.18929
ATCAGCCGTGAGCATGCCAAAATCTTCAACTACGGCCGCATCTATGGTGCTGGGCAGCCC c.2880
I S R E H A K I F N Y G R I Y G A G Q P p.960
. . . . . . g.18989
TTTGCTGAGCGCTTACTAATGCAGTTTAACCACCGGCTCACACAGCAGGAGGCAGCTGAG c.2940
F A E R L L M Q F N H R L T Q Q E A A E p.980
. . . . | 19 . . g.20464
AAGGCCCAGCAGATGTACGCTGCCACCAAGGGCCTCCGCTG | GTATCGGCTGTCGGATGAG c.3000
K A Q Q M Y A A T K G L R W | Y R L S D E p.1000
. . . . . . g.20524
GGCGAGTGGCTGGTGAGGGAGTTGAACCTCCCAGTGGACAGGACTGAGGGTGGCTGGATT c.3060
G E W L V R E L N L P V D R T E G G W I p.1020
. . . . | 20 . . g.20712
TCCCTGCAGGATCTGCGCAAGGTCCAGAGAGAAACTGCAAGGAA | GTCACAGTGGAAGAAG c.3120
S L Q D L R K V Q R E T A R K | S Q W K K p.1040
. . . . . . g.20772
TGGGAGGTGGTTGCTGAACGGGCATGGAAGGGGGGCACAGAGTCAGAAATGTTCAATAAG c.3180
W E V V A E R A W K G G T E S E M F N K p.1060
. . . . . . g.20832
CTTGAGAGCATTGCTACGTCTGACATACCACGTACCCCGGTGCTGGGCTGCTGCATCAGC c.3240
L E S I A T S D I P R T P V L G C C I S p.1080
. . . | 21 . . . g.21073
CGAGCCCTGGAGCCCTCGGCTGTCCAGGAAGAG | TTTATGACCAGCCGTGTGAATTGGGTG c.3300
R A L E P S A V Q E E | F M T S R V N W V p.1100
. . . . . . g.21133
GTACAGAGCTCTGCTGTTGACTACTTACACCTCATGCTTGTGGCCATGAAGTGGCTGTTT c.3360
V Q S S A V D Y L H L M L V A M K W L F p.1120
. . . . . . g.21193
GAAGAGTTTGCCATAGATGGGCGCTTCTGCATCAGCATCCATGACGAGGTTCGCTACCTG c.3420
E E F A I D G R F C I S I H D E V R Y L p.1140
. . . . . . g.21253
GTGCGGGAGGAGGACCGCTACCGCGCTGCCCTGGCCTTGCAGATCACCAACCTCTTGACC c.3480
V R E E D R Y R A A L A L Q I T N L L T p.1160
| 22 . . . . . . g.22317
AG | GTGCATGTTTGCCTACAAGCTGGGTCTGAATGACTTGCCCCAGTCAGTCGCCTTTTTC c.3540
R | C M F A Y K L G L N D L P Q S V A F F p.1180
. . . . . . g.22377
AGTGCAGTCGATATTGACCGGTGCCTCAGGAAGGAAGTGACCATGGATTGTAAAACCCCT c.3600
S A V D I D R C L R K E V T M D C K T P p.1200
. . . . | 23 . . g.22985
TCCAACCCAACTGGGATGGAAAGGAGATACGGGATTCCCCAGG | GTGAAGCGCTGGATATT c.3660
S N P T G M E R R Y G I P Q G | E A L D I p.1220
. . . . . . g.23045
TACCAGATAATTGAACTCACCAAAGGCTCCTTGGAAAAACGAAGCCAGCCTGGACCATAG c.3720
Y Q I I E L T K G S L E K R S Q P G P X p.1239
. . . . . . g.23105
cactgcctggaggctctgtatttgctcccgtggagcttcatcggggtggtgcaggctccc c.*60
. . . . . . g.23165
aaactcaggctttcagctgtgctttttgcaaaagggcttgcctaaggccagccatttttc c.*120
. . . . . . g.23225
agtagcaggacctgccaagaagattccttctaactgaaggtgcagttgaattcagtgggt c.*180
. . . . . . g.23285
tcagaaccaagatgccaacatcggtgtggactacaggacaaggggcattgttgcttgttg c.*240
. . . . . . g.23345
ggtaaaaatgaagcagaagccccaaagttcacattaactcaggcatttcatttatttttt c.*300
. . . . . . g.23405
ccttttcttcttggctggttctttgttctgtcccccatgctctgatgcagtgccctagaa c.*360
. . . . . . g.23465
ggggaaagaattaatgctctaacgtgataaacctgctccaaggcagtggaaataaaaaga c.*420
. . g.23491
aggaaaaaaaagactctatcttctca c.*446
(downstream sequence)
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