(used for variant description)
(last modified June 6, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_006623.3 in the PHGDH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering PHGDH transcript NM_006623.3.
(upstream sequence)
. . . . g.5047
gcagggatttggcaacctcagagccgcgaggaggaggcggagtcgcg c.-181
. . . . . . g.5107
gagagtttgagtatttccgtccaatcaaaaggagactgtaagaggaggaggaggaggaga c.-121
. . . . . . g.5167
tgactggggagcgggagctggagaatactgcccagttactctagcgcgccaggccgaacc c.-61
. . . . . . g.5227
gcagcttcttggcttaggtacttctactcacagcggccgattccgaggccaactccagca c.-1
. . . . . . g.5287
ATGGCTTTTGCAAATCTGCGGAAAGTGCTCATCAGTGACAGCCTGGACCCTTGCTGCCGG c.60
M A F A N L R K V L I S D S L D P C C R p.20
. . . . . . g.5347
AAGATCTTGCAAGATGGAGGGCTGCAGGTGGTGGAAAAGCAGAACCTTAGCAAAGAGGAG c.120
K I L Q D G G L Q V V E K Q N L S K E E p.40
. | 02 . . . . g.14416
CTGATAGCGGAGCTGCAG | GACTGTGAAGGCCTTATTGTTCGCTCTGCCACCAAGGTGACC c.180
L I A E L Q | D C E G L I V R S A T K V T p.60
. . . . . . g.14476
GCTGATGTCATCAACGCAGCTGAGAAACTCCAGGTGGTGGGCAGGGCTGGCACAGGTGTG c.240
A D V I N A A E K L Q V V G R A G T G V p.80
. . . . . | 03 . g.16590
GACAATGTGGATCTGGAGGCCGCAACAAGGAAGGGCATCTTGGTTATGAA | CACCCCCAAT c.300
D N V D L E A A T R K G I L V M N | T P N p.100
. . . . . | 04 . g.20059
GGGAACAGCCTCAGTGCCGCAGAACTCACTTGTGGAATGATCATGTGCCTGGCCAG | GCAG c.360
G N S L S A A E L T C G M I M C L A R | Q p.120
. . . . . | 05 . g.20217
ATTCCCCAGGCGACGGCTTCGATGAAGGACGGCAAATGGGAGCGGAAGAAG | TTCATGGGA c.420
I P Q A T A S M K D G K W E R K K | F M G p.140
. . . . . . g.20277
ACAGAGCTGAATGGAAAGACCCTGGGAATTCTTGGCCTGGGCAGGATTGGGAGAGAGGTA c.480
T E L N G K T L G I L G L G R I G R E V p.160
. . . | 06 . . . g.27868
GCTACCCGGATGCAGTCCTTTGGGATGAAG | ACTATAGGGTATGACCCCATCATTTCCCCA c.540
A T R M Q S F G M K | T I G Y D P I I S P p.180
. . . . . . g.27928
GAGGTCTCGGCCTCCTTTGGTGTTCAGCAGCTGCCCCTGGAGGAGATCTGGCCTCTCTGT c.600
E V S A S F G V Q Q L P L E E I W P L C p.200
. . . . | 07 . . g.28516
GATTTCATCACTGTGCACACTCCTCTCCTGCCCTCCACGACAG | GCTTGCTGAATGACAAC c.660
D F I T V H T P L L P S T T G | L L N D N p.220
. . . . . . g.28576
ACCTTTGCCCAGTGCAAGAAGGGGGTGCGTGTGGTGAACTGTGCCCGTGGAGGGATCGTG c.720
T F A Q C K K G V R V V N C A R G G I V p.240
. . . . . . g.28636
GACGAAGGCGCCCTGCTCCGGGCCCTGCAGTCTGGCCAGTGTGCCGGGGCTGCACTGGAC c.780
D E G A L L R A L Q S G Q C A G A A L D p.260
. | 08 . . . . . g.30366
GTGTTTACGGAA | GAGCCGCCACGGGACCGGGCCTTGGTGGACCATGAGAATGTCATCAGC c.840
V F T E | E P P R D R A L V D H E N V I S p.280
. . . . . . g.30426
TGTCCCCACCTGGGTGCCAGCACCAAGGAGGCTCAGAGCCGCTGTGGGGAGGAAATTGCT c.900
C P H L G A S T K E A Q S R C G E E I A p.300
. . . . | 09 . . g.33605
GTTCAGTTCGTGGACATGGTGAAGGGGAAATCTCTCACGGGGGTT | GTGAATGCCCAGGCC c.960
V Q F V D M V K G K S L T G V | V N A Q A p.320
. . . . . . g.33665
CTTACCAGTGCCTTCTCTCCACACACCAAGCCTTGGATTGGTCTGGCAGAAGCTCTGGGG c.1020
L T S A F S P H T K P W I G L A E A L G p.340
. . . . . | 10 g.34973
ACACTGATGCGAGCCTGGGCTGGGTCCCCCAAAGGGACCATCCAGGTGATAACACAGG | GA c.1080
T L M R A W A G S P K G T I Q V I T Q G | p.360
. . . . . . g.35033
ACATCCCTGAAGAATGCTGGGAACTGCCTAAGCCCCGCAGTCATTGTCGGCCTCCTGAAA c.1140
T S L K N A G N C L S P A V I V G L L K p.380
. . . . . . g.35093
GAGGCTTCCAAGCAGGCGGATGTGAACTTGGTGAACGCTAAGCTGCTGGTGAAAGAGGCT c.1200
E A S K Q A D V N L V N A K L L V K E A p.400
| 11 . . . . . g.36062
GGCCTCAAT | GTCACCACCTCCCACAGCCCTGCTGCACCAGGGGAGCAAGGCTTCGGGGAA c.1260
G L N | V T T S H S P A A P G E Q G F G E p.420
. . . . . . g.36122
TGCCTCCTGGCCGTGGCCCTGGCAGGCGCCCCTTACCAGGCTGTGGGCTTGGTCCAAGGC c.1320
C L L A V A L A G A P Y Q A V G L V Q G p.440
. . . . . . g.36182
ACTACGCCTGTACTGCAGGGGCTCAATGGAGCTGTCTTCAGGCCAGAAGTGCCTCTCCGC c.1380
T T P V L Q G L N G A V F R P E V P L R p.460
. . . . . . g.36242
AGGGACCTGCCCCTGCTCCTATTCCGGACTCAGACCTCTGACCCTGCAATGCTGCCTACC c.1440
R D L P L L L F R T Q T S D P A M L P T p.480
| 12. . . . . . g.37143
ATGATTG | GCCTCCTGGCAGAGGCAGGCGTGCGGCTGCTGTCCTACCAGACTTCACTGGTG c.1500
M I G | L L A E A G V R L L S Y Q T S L V p.500
. . . . . . g.37203
TCAGATGGGGAGACCTGGCACGTCATGGGCATCTCCTCCTTGCTGCCCAGCCTGGAAGCG c.1560
S D G E T W H V M G I S S L L P S L E A p.520
. . . . g.37245
TGGAAGCAGCATGTGACTGAAGCCTTCCAGTTCCACTTCTAA c.1602
W K Q H V T E A F Q F H F X p.533
. . . . . . g.37305
ccttggagctcactggtccctgcctctggggcttttctgaagaaacccacccactgtgat c.*60
. . . . . . g.37365
caatagggagagaaaatccacattcttgggctgaacgcgggcctctgacactgcttacac c.*120
. . . . . . g.37425
tgcactctgaccctgtagtacagcaataaccgtctaataaagagcctacccccaactcct c.*180
g.37431
tctgca c.*186
(downstream sequence)
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