(used for variant description)
(last modified November 4, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_207173.1 in the NPSR1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012185.2, covering NPSR1 transcript NM_207173.1.
(upstream sequence)
g.5008
gggctcag c.-121
. . . . . . g.5068
ggagggctctgtgcctccgttcagcagagctgcagctgctgcccagctctcaggaggcaa c.-61
. . . . . . g.5128
gctggactccctcactcagctgcaggagcaaggacagtgaggctcaaccccgcctgagcc c.-1
. . . . . . g.5188
ATGCCAGCCAACTTCACAGAGGGCAGCTTCGATTCCAGTGGGACCGGGCAGACGCTGGAT c.60
M P A N F T E G S F D S S G T G Q T L D p.20
. . . . . . g.5248
TCTTCCCCAGTGGCTTGCACTGAAACAGTGACTTTTACTGAAGTGGTGGAAGGAAAGGAA c.120
S S P V A C T E T V T F T E V V E G K E p.40
. . | 02. . . . g.31300
TGGGGTTCCTTCTACTACTCCTTTAAG | ACTGAGCAATTGATAACTCTGTGGGTCCTCTTT c.180
W G S F Y Y S F K | T E Q L I T L W V L F p.60
. . . . . . g.31360
GTTTTTACCATTGTTGGAAACTCCGTTGTGCTTTTTTCCACATGGAGGAGAAAGAAGAAG c.240
V F T I V G N S V V L F S T W R R K K K p.80
. . . . | 03 . . g.125197
TCAAGAATGACCTTCTTTGTGACTCAGCTGGCCATCACAG | ATTCTTTCACAGGACTGGTC c.300
S R M T F F V T Q L A I T D | S F T G L V p.100
. . . . . . g.125257
AACATCTTGACAGATATTAATTGGCGATTCACTGGAGACTTCACGGCACCTGACCTGGTT c.360
N I L T D I N W R F T G D F T A P D L V p.120
. . | 04 . . . . g.158521
TGCCGAGTGGTCCGCTATTTGCAG | GTTGTGCTGCTCTACGCCTCTACCTACGTCCTGGTG c.420
C R V V R Y L Q | V V L L Y A S T Y V L V p.140
. . . . . | 05 g.174118
TCCCTCAGCATAGACAGATACCATGCCATCGTCTACCCCATGAAGTTCCTTCAAGGAG | AA c.480
S L S I D R Y H A I V Y P M K F L Q G E | p.160
. . . . . . g.174178
AAGCAAGCCAGGGTCCTCATTGTGATCGCCTGGAGCCTGTCTTTTCTGTTCTCCATTCCC c.540
K Q A R V L I V I A W S L S F L F S I P p.180
. . . . . . g.174238
ACCCTGATCATATTTGGGAAGAGGACACTGTCCAACGGTGAAGTGCAGTGCTGGGCCCTG c.600
T L I I F G K R T L S N G E V Q C W A L p.200
. . . . . . g.174298
TGGCCTGACGACTCCTACTGGACCCCATACATGACCATCGTGGCCTTCCTGGTGTACTTC c.660
W P D D S Y W T P Y M T I V A F L V Y F p.220
. . | 06 . . . . g.181139
ATCCCTCTGACAATCATCAG | CATCATGTATGGCATTGTGATCCGAACTATTTGGATTAAA c.720
I P L T I I S | I M Y G I V I R T I W I K p.240
. . . | 07. . . g.191634
AGCAAAACCTACGAAACAGTGATTTCCAACTGCTCAG | ATGGGAAACTGTGCAGCAGCTAT c.780
S K T Y E T V I S N C S D | G K L C S S Y p.260
. . . . . . g.191694
AACCGAGGACTCATCTCAAAGGCAAAAATCAAGGCTATCAAGTATAGCATCATCATCATT c.840
N R G L I S K A K I K A I K Y S I I I I p.280
| 08 . . . . . . g.195254
CTTG | CCTTCATCTGCTGTTGGAGTCCATACTTCCTGTTTGACATTTTGGACAATTTCAAC c.900
L A | F I C C W S P Y F L F D I L D N F N p.300
. . . . . . g.195314
CTCCTTCCAGACACCCAGGAGCGTTTCTATGCCTCTGTGATCATTCAGAACCTGCCAGCA c.960
L L P D T Q E R F Y A S V I I Q N L P A p.320
. . . . . . g.195374
TTGAATAGTGCCATCAACCCCCTCATCTACTGTGTCTTCAGCAGCTCCATCTCTTTCCCC c.1020
L N S A I N P L I Y C V F S S S I S F P p.340
| 09 . . . . . . g.224846
TGCAG | GGTCATCCGTCTCCGTCAGCTCCAGGAGGCTGCGCTAATGCTCTGCCCTCAACGA c.1080
C R | V I R L R Q L Q E A A L M L C P Q R p.360
. . . . . g.224900
GAGAACTGGAAGGGTACTTGGCCAGGTGTACCTTCCTGGGCTCTTCCAAGGTGA c.1134
E N W K G T W P G V P S W A L P R X p.377
. . . . . . g.224960
cagctctcaccctgtgctgcaggtggccctgtgcctggtgccacttctcactgcttacca c.*60
. . . . . . g.225020
gggcacaaggacaccagtggttcccaaaatgggtcacagcaggatggcctgcatcagatt c.*120
. . g.225048
caccagggagggctataagaaggcagac c.*148
(downstream sequence)
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