(used for variant description)
(last modified February 17, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_000298.5 in the PKLR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering PKLR transcript NM_000298.5.
(upstream sequence)
. . . g.5039
cattccatggtcccgcagccccaggcccacactgaaagc c.-1
. . . . . . g.5099
ATGTCGATCCAGGAGAACATATCATCCCTGCAGCTTCGGTCATGGGTCTCTAAGTCCCAA c.60
M S I Q E N I S S L Q L R S W V S K S Q p.20
. . . . | 02 . . g.6174
AGAGACTTAGCAAAGTCCATCCTGATTGGGGCTCCAGGAG | GGCCAGCGGGGTATCTGCGG c.120
R D L A K S I L I G A P G G | P A G Y L R p.40
. . . . . . g.6234
CGGGCCAGTGTGGCCCAACTGACCCAGGAGCTGGGCACTGCCTTCTTCCAGCAGCAGCAG c.180
R A S V A Q L T Q E L G T A F F Q Q Q Q p.60
. . . . . . g.6294
CTGCCAGCTGCTATGGCAGACACCTTCCTGGAACACCTCTGCCTACTGGACATTGACTCC c.240
L P A A M A D T F L E H L C L L D I D S p.80
. . . . | 03 . . g.10695
GAGCCCGTGGCTGCTCGCAGTACCAGCATCATTGCCACCATCG | GGCCAGCATCTCGCTCC c.300
E P V A A R S T S I I A T I G | P A S R S p.100
. . . . . . g.10755
GTGGAGCGCCTCAAGGAGATGATCAAGGCCGGGATGAACATTGCGCGACTCAACTTCTCC c.360
V E R L K E M I K A G M N I A R L N F S p.120
. | 04 . . . . . g.10911
CACGGCTCCCACGAG | TACCATGCTGAGTCCATCGCCAACGTCCGGGAGGCGGTGGAGAGC c.420
H G S H E | Y H A E S I A N V R E A V E S p.140
. . . . . . g.10971
TTTGCAGGTTCCCCACTCAGCTACCGGCCCGTGGCCATCGCCCTGGACACCAAGGGACCG c.480
F A G S P L S Y R P V A I A L D T K G P p.160
. . | 05. . . . g.11165
GAGATCCGCACTGGGATCCTGCAGGGG | GGTCCAGAGTCGGAAGTGGAGCTGGTGAAGGGC c.540
E I R T G I L Q G | G P E S E V E L V K G p.180
. . . . . . g.11225
TCCCAGGTGCTGGTGACTGTGGACCCCGCGTTCCGGACGCGGGGGAACGCGAACACCGTG c.600
S Q V L V T V D P A F R T R G N A N T V p.200
. . . . . . g.11285
TGGGTGGACTACCCCAATATTGTCCGGGTCGTGCCGGTGGGGGGCCGCATCTACATTGAC c.660
W V D Y P N I V R V V P V G G R I Y I D p.220
. . . | 06 . . . g.11708
GACGGGCTCATCTCCCTAGTGGTCCAGAAAATCG | GCCCAGAGGGACTGGTGACCCAAGTG c.720
D G L I S L V V Q K I G | P E G L V T Q V p.240
. . . . . . g.11768
GAGAACGGCGGCGTCCTGGGCAGCCGGAAGGGCGTGAACTTGCCAGGGGCCCAGGTGGAC c.780
E N G G V L G S R K G V N L P G A Q V D p.260
. . . . . . g.11828
TTGCCCGGGCTGTCCGAGCAGGACGTCCGAGACCTGCGCTTCGGGGTGGAGCATGGGGTG c.840
L P G L S E Q D V R D L R F G V E H G V p.280
. . . . . . g.11888
GACATCGTCTTTGCCTCCTTTGTGCGGAAAGCCAGCGACGTGGCTGCCGTCAGGGCTGCT c.900
D I V F A S F V R K A S D V A A V R A A p.300
. . . . . . g.11948
CTGGGTCCGGAAGGACACGGCATCAAGATCATCAGCAAAATTGAGAACCACGAAGGCGTG c.960
L G P E G H G I K I I S K I E N H E G V p.320
| 07 . . . . . . g.12104
AAGAG | GTTTGATGAAATCCTGGAGGTGAGCGACGGCATCATGGTGGCACGGGGGGACCTA c.1020
K R | F D E I L E V S D G I M V A R G D L p.340
. . . . . . g.12164
GGCATCGAGATCCCAGCAGAGAAGGTTTTCCTGGCTCAGAAGATGATGATTGGGCGCTGC c.1080
G I E I P A E K V F L A Q K M M I G R C p.360
. . . | 08 . . . g.12868
AACTTGGCGGGCAAGCCTGTTGTCTGTGCCACACAG | ATGCTGGAGAGCATGATTACCAAG c.1140
N L A G K P V V C A T Q | M L E S M I T K p.380
. . . . . . g.12928
CCCCGGCCAACGAGGGCAGAGACAAGCGATGTCGCCAATGCTGTGCTGGATGGGGCTGAC c.1200
P R P T R A E T S D V A N A V L D G A D p.400
. . . . . . g.12988
TGCATCATGCTGTCAGGGGAGACTGCCAAGGGCAACTTCCCTGTGGAAGCGGTGAAGATG c.1260
C I M L S G E T A K G N F P V E A V K M p.420
| 09 . . . . . g.13142
CAGCATGCG | ATTGCCCGGGAGGCAGAGGCCGCAGTGTACCACCGGCAGCTGTTTGAGGAG c.1320
Q H A | I A R E A E A A V Y H R Q L F E E p.440
. . . . . . g.13202
CTACGTCGGGCAGCGCCACTAAGCCGTGATCCCACTGAGGTCACCGCCATTGGTGCTGTG c.1380
L R R A A P L S R D P T E V T A I G A V p.460
. . . . . | 10 . g.14501
GAGGCTGCCTTCAAGTGCTGTGCTGCTGCCATCATTGTGCTGACCACAACTGGCCG | CTCA c.1440
E A A F K C C A A A I I V L T T T G R | S p.480
. . . . . . g.14561
GCCCAGCTTCTGTCTCGGTACCGACCTCGGGCAGCAGTCATTGCTGTCACCCGCTCTGCC c.1500
A Q L L S R Y R P R A A V I A V T R S A p.500
. . . . . . g.14621
CAGGCTGCCCGCCAGGTCCACTTATGCCGAGGAGTCTTCCCCTTGCTTTACCGTGAACCT c.1560
Q A A R Q V H L C R G V F P L L Y R E P p.520
. . . . . | 11 g.15758
CCAGAAGCCATCTGGGCAGATGATGTAGATCGCCGGGTGCAATTTGGCATTGAAAGTG | GA c.1620
P E A I W A D D V D R R V Q F G I E S G | p.540
. . . . . . g.15818
AAGCTCCGTGGCTTCCTCCGTGTTGGAGACCTGGTGATTGTGGTGACAGGCTGGCGACCT c.1680
K L R G F L R V G D L V I V V T G W R P p.560
. . . . g.15863
GGCTCCGGCTACACCAACATCATGCGGGTGCTAAGCATATCCTGA c.1725
G S G Y T N I M R V L S I S X p.574
. . . . . . g.15923
gacgcccctccctcctctggcccagcctacccttgtaccccatcccttcctccccagtct c.*60
. . . . . . g.15983
acgttctccagcccacacccctccaaagccccacctttaagtcctctcttctctattcct c.*120
. . . . . . g.16043
gaccctccctacctgaggcctatctgagactataactgtcatctagccccttcgaggttg c.*180
. . . . . . g.16103
ccccttccccatctccatttcacacaggtcctgaaagtctgtgtccaattatgcactggc c.*240
. . . . . . g.16163
cacccaacagcaccaattgtacattccctgcatccaatctgctcagcaggccctaagatg c.*300
. . . . . . g.16223
ccttgagtctttaatcccagtttggctggttaattccataaccccaggcatcccatccct c.*360
. . . . . . g.16283
tggggtgggggagaggggagacagggcaatcttgtccacagtctcccattctcatatgta c.*420
. . . . . . g.16343
gccctcatgataatctgggcatctcgtgccagggcaggctaccccttcatggtgactaac c.*480
. . . . . . g.16403
agttacatgaaagtccacgcttttgggaaaactgggtgggatggatgctggggagaagtg c.*540
. . . . . . g.16463
agggctgggcagctgattttgtcactgtcttcacaacctccgtgctgggcttgtagacca c.*600
. . . . . . g.16523
ctgtcctggctgctctcatgcctgcctgataccctgcttggtcaaatccccggctgcttc c.*660
. . . . . . g.16583
cttctgcacccagaaattccttcccactcatgttgttcccacacacaaaccaagagccaa c.*720
. . . . . . g.16643
aaatgagtgtgtctattttatatttaaacccagctgtttggaagcaattataaaacttct c.*780
. . . . . . g.16703
cccacacaccaagaaccccagaactccccacccagaaggaaaggagacttagggtcctgg c.*840
. . . . . . g.16763
tcccacagtctttaatgctgtagagtaggagaggggacaggcagagtgagggtggtaaag c.*900
. . . . . . g.16823
gactactcttgtccctgagaaggcagaggtgctggctggcctgcccttccccaggcttgg c.*960
. . . . . . g.16883
ataccttgggcctttcccttattcctgcaccaacagcaaactcagaaggaaaaaacaaaa c.*1020
. . . . . . g.16943
caaaactctaaaggtaaacgcggtccttctccctctctcatgtggctcctcctgccccta c.*1080
. . . . . . g.17003
cctgggagaaggttcaagtattgcgctgatgggtttgggcaaggaccacagaggctggca c.*1140
. . . . . . g.17063
tggagaggccctgcctcctcctactcctcctgtctccttacctgaaaaggaggggaggga c.*1200
. . . . . . g.17123
tggataaaggaatgggtaaacaaaattaattggtaacacataaagttagtaaatgaataa c.*1260
. g.17142
atacaattaaataaatgaa c.*1279
(downstream sequence)
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