(used for variant description)
(last modified November 23, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_014317.3 in the PDSS1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering PDSS1 transcript NM_014317.3.
(upstream sequence)
. . . . g.5046
gccagaggcggagccgccgccctgccgcgactttcagactccgacc c.-1
. . . . . . g.5106
ATGGCCTCGCGCTGGTGGCGGTGGCGGCGCGGCTGCTCCTGGAAGCCGGCGGCGCGGAGC c.60
M A S R W W R W R R G C S W K P A A R S p.20
. . . . . . g.5166
CCCGGGCCCGGCTCCCCCGGCCGTGCGGGACCGTTGGGGCCGAGCGCCGCTGCCGAAGTC c.120
P G P G S P G R A G P L G P S A A A E V p.40
| 02 . . . | 03 . . g.12029
CGCGCGCAG | GTTCATAGGCGGAAGGGACTTGACTTGTCTCAG | ATACCCTATATTAATCTT c.180
R A Q | V H R R K G L D L S Q | I P Y I N L p.60
. . . . | 04. . g.12633
GTGAAGCATTTAACATCTGCCTGTCCAAATGTATGTCGTATATCACG | GTTTCATCACACA c.240
V K H L T S A C P N V C R I S R | F H H T p.80
. . . . . . g.12693
ACCCCAGACAGTAAAACACACAGTGGTGAAAAATACACCGATCCTTTCAAACTCGGTTGG c.300
T P D S K T H S G E K Y T D P F K L G W p.100
. . . | 05 . . . g.16996
AGAGACTTGAAAGGTCTGTATGAGGACATTAGAAAG | GAACTGCTTATATCAACATCAGAA c.360
R D L K G L Y E D I R K | E L L I S T S E p.120
. . . . . . g.17056
CTTAAGGAAATGTCTGAGTACTACTTTGATGGGAAAGGGAAAGCCTTTCGACCAATTATT c.420
L K E M S E Y Y F D G K G K A F R P I I p.140
. . . . | 06. . g.27565
GTGGCGCTAATGGCCCGAGCATGCAATATTCATCATAACAACTCCCG | ACATGTGCAAGCC c.480
V A L M A R A C N I H H N N S R | H V Q A p.160
. . . . . . g.27625
AGCCAGCGCGCCATAGCCTTAATTGCAGAAATGATCCACACTGCTAGTCTGGTTCACGAT c.540
S Q R A I A L I A E M I H T A S L V H D p.180
. . . . . . g.27685
GACGTTATTGACGATGCAAGTTCTCGAAGAGGAAAACACACAGTTAATAAGATCTGGGGT c.600
D V I D D A S S R R G K H T V N K I W G p.200
| 07 . . . . . g.31191
GAAAAGAAG | GCTGTTCTTGCTGGAGATTTAATTCTTTCTGCAGCATCTATAGCTCTGGCA c.660
E K K | A V L A G D L I L S A A S I A L A p.220
. . . . . . g.31251
CGAATTGGAAATACAACTGTTATATCTATTTTAACCCAAGTTATTGAAGATTTGGTGCGT c.720
R I G N T T V I S I L T Q V I E D L V R p.240
| 08 . . . . . . g.31407
G | GTGAATTTCTTCAGCTCGGGTCAAAAGAAAATGAGAATGAAAGATTTGCACACTACCTT c.780
G | E F L Q L G S K E N E N E R F A H Y L p.260
. . . . . | 09 . g.42583
GAGAAGACATTCAAGAAGACCGCCAGCCTGATAGCCAACAGTTGTAAAGCA | GTCTCTGTT c.840
E K T F K K T A S L I A N S C K A | V S V p.280
. . . . . . g.42643
CTAGGATGTCCCGACCCAGTGGTGCATGAGATCGCCTATCAGTACGGAAAAAATGTAGGA c.900
L G C P D P V V H E I A Y Q Y G K N V G p.300
. | 10 . . . . . g.42848
ATAGCTTTTCAG | CTAATAGATGATGTATTGGACTTCACCTCGTGTTCTGACCAGATGGGC c.960
I A F Q | L I D D V L D F T S C S D Q M G p.320
. . . . . . g.42908
AAACCAACATCAGCTGATCTGAAGCTCGGGTTAGCCACTGGTCCTGTCCTGTTTGCCTGT c.1020
K P T S A D L K L G L A T G P V L F A C p.340
| 11 . . . . . . g.49885
CAGCAG | TTCCCAGAAATGAATGCTATGATCATGCGACGGTTCAGTTTGCCTGGAGATGTA c.1080
Q Q | F P E M N A M I M R R F S L P G D V p.360
. . | 12. . . . g.53700
GACAGAGCTCGACAGTATGTACTACAG | AGTGATGGTGTGCAACAAACAACCTACCTCGCC c.1140
D R A R Q Y V L Q | S D G V Q Q T T Y L A p.380
. . . . . . g.53760
CAGCAGTACTGCCATGAAGCAATAAGAGAGATCAGTAAACTTCGACCATCCCCAGAAAGA c.1200
Q Q Y C H E A I R E I S K L R P S P E R p.400
. . . . g.53808
GATGCCCTCATTCAGCTTTCAGAAATTGTACTCACAAGAGATAAATGA c.1248
D A L I Q L S E I V L T R D K X p.415
. . . . . . g.53868
caactctttctgttctttctggcagctatcttaccagactgtgcctaaagaattttgtgg c.*60
. . . . . . g.53928
aatacactttgtttgcttcatgtgcagataaccaaaaatcattttaaaagatatcaaact c.*120
. . . . . . g.53988
tattgatgggcaatttatttttttttattgcaaaagttttttcagaaaactttttaaatg c.*180
. . . . . . g.54048
taattaataaaccacctgaatctgtcattctagtcctataaattataatcaaggtatctt c.*240
. . . . . . g.54108
gatggttatatgtggtattgtttacactgttaatatccacatgtaaggccattacacaaa c.*300
. . g.54133
taaataaccaatgttaaaattcaaa c.*325
(downstream sequence)
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