(used for variant description)
(last modified November 8, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_006545.4 in the NPRL2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering NPRL2 transcript NM_006545.4.
(upstream sequence)
. . . . g.5043
agcgtgaatcccttagcgcaccgcctccccaagtgctgccagc c.-361
. . . . . . g.5103
atgctgcccctccacgctagggacttgcctgcctctgccgcagcgcagatctgatgcggt c.-301
. . . . . . g.5163
ggtttcctccaaagaaagcgggatactccgggccctgccgcgcgcaccgccgctccgtca c.-241
. . . . . . g.5223
cggagccgctttacttccgggtgcgacgtctacccacccaggacttcctgggacgagccg c.-181
. . . . . . g.5283
tcccccgccccagccacgcctctgagtcgcgctgcgcaggcgccattgggcagagggatt c.-121
. . . . . . g.5343
ggcaagcttgcgtgccccagcgacacaggcctcgaggctgtctctgacaagtgttcacag c.-61
. . . . . . g.5403
gaggtggggacgcctctgcgcgaggaacgaggagctacgggcctgggcccggttattgcc c.-1
. . . . . . g.5463
ATGGGCAGCGGCTGCCGCATCGAATGCATATTCTTCAGCGAGTTCCACCCCACGCTGGGA c.60
M G S G C R I E C I F F S E F H P T L G p.20
. | 02 . . . . g.6075
CCCAAGATCACCTATCAG | GTCCCTGAAGACTTCATCTCCCGAGAGCTGTTTGACACAGTC c.120
P K I T Y Q | V P E D F I S R E L F D T V p.40
. . . . . | 03 . g.6232
CAAGTGTACATCATCACCAAGCCAGAGCTGCAGAACAAGCTTATCACTGT | CACAGCTATG c.180
Q V Y I I T K P E L Q N K L I T V | T A M p.60
. . . . . . g.6292
GAAAAGAAGCTGATCGGCTGTCCTGTGTGCATCGAACACAAGAAGTACAGCCGCAATGCT c.240
E K K L I G C P V C I E H K K Y S R N A p.80
. . . . . . g.6352
CTCCTCTTCAACCTGGGCTTCGTGTGTGATGCCCAGGCCAAGACCTGCGCCCTCGAGCCC c.300
L L F N L G F V C D A Q A K T C A L E P p.100
. . . | 04 . . g.6582
ATTGTTAAAAAGCTGGCTGGCTATCTGACCACACTAGAG | CTAGAGAGCAGCTTCGTGTCC c.360
I V K K L A G Y L T T L E | L E S S F V S p.120
. . . . . . g.6642
ATGGAGGAGAGCAAGCAGAAGTTGGTGCCCATCATGACCATCTTGCTGGAGGAGCTAAAT c.420
M E E S K Q K L V P I M T I L L E E L N p.140
. . | 05 . . . g.7077
GCCTCAGGCCGGTGCACTCTGCCCATTG | ATGAGTCCAACACCATCCACTTGAAGGTGATT c.480
A S G R C T L P I D | E S N T I H L K V I p.160
. . . . . . g.7137
GAGCAGCGGCCAGACCCTCCGGTGGCCCAGGAGTATGATGTACCTGTCTTTACCAAAGAC c.540
E Q R P D P P V A Q E Y D V P V F T K D p.180
. . . . | 06 . . g.7288
AAGGAGGATTTCTTCAACTCACAGTGGGACCTCACTACACAACAA | ATCCTGCCCTACATT c.600
K E D F F N S Q W D L T T Q Q | I L P Y I p.200
. . . . . . g.7348
GATGGGTTCCGCCACATCCAGAAGATTTCAGCAGAGGCAGATGTGGAGCTCAACCTGGTG c.660
D G F R H I Q K I S A E A D V E L N L V p.220
. . | 07 . . . . g.7529
CGCATTGCTATCCAGAACCTGCT | GTACTACGGCGTTGTGACACTGGTGTCCATCCTCCAG c.720
R I A I Q N L L | Y Y G V V T L V S I L Q p.240
| 08 . . . . . . g.7705
| TACTCCAATGTATACTGCCCAACGCCCAAGGTCCAGGACCTGGTAGATGACAAGTCCCTG c.780
| Y S N V Y C P T P K V Q D L V D D K S L p.260
. . . | 09 . . . g.7840
CAAGAGGCATGTCTATCCTACGTGACCAAGCAAG | GGCACAAGAGGGCCAGTCTCCGGGAT c.840
Q E A C L S Y V T K Q G | H K R A S L R D p.280
. . . . . . g.7900
GTGTTCCAGCTATACTGCAGCCTGAGCCCTGGCACTACCGTGCGAGACCTCATTGGCCGC c.900
V F Q L Y C S L S P G T T V R D L I G R p.300
. . . | 10 . . . g.8182
CACCCCCAGCAGCTGCAGCATGTTGATGAACG | GAAGCTGATCCAGTTCGGGCTTATGAAG c.960
H P Q Q L Q H V D E R | K L I Q F G L M K p.320
. . . . . . g.8242
AACCTCATCAGGCGACTACAGAAGTATCCTGTGCGGGTGACTCGGGAAGAGCAGAGCCAC c.1020
N L I R R L Q K Y P V R V T R E E Q S H p.340
. . . . . | 11 . g.8387
CCTGCCCGGCTTTATACAGGCTGCCACAGCTATGACGAGATCTGCTGCAAGACAG | GCATG c.1080
P A R L Y T G C H S Y D E I C C K T G | M p.360
. . . . . . g.8447
AGCTACCATGAGCTGGATGAGCGGCTTGAAAATGACCCCAACATCATCATCTGCTGGAAG c.1140
S Y H E L D E R L E N D P N I I I C W K p.380
g.8450
TGA c.1143
X p.380
. . . . . . g.8510
ggctggtagtgactggatggacacattgctgtgggtagtccctcctactaggaggcttgt c.*60
. . . . . g.8568
catactgtctagaggttgactcttagttctgtaaataaagacatccatttcaaacagc c.*118
(downstream sequence)
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