(used for variant description)
(last modified February 13, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_172095.1 in the CATSPER2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering CATSPER2 transcript NM_172095.1.
(upstream sequence)
. . . g.5035
gctccgcatggtcctgggctgtgggtaggggctag c.-181
. . . . . . g.5095
ggccgggtcccggggtgagccgaaacctgggggtcgagcggggcggggaatggggcgcag c.-121
. . . . . . g.5155
tgaggctgggagccggccctgagctcgtcttgcataggggtagccaggctcggggcacct c.-61
. . . . . . | 02 g.5780
gagctggaggcggaagcgtgaaataaggactgagtgggcaaagagaacctgggctgag | ac c.-1
. . . . . . g.5840
ATGGCCGCTTACCAACAAGAAGAGCAGATGCAGCTTCCCCGAGCTGATGCCATTCGTTCA c.60
M A A Y Q Q E E Q M Q L P R A D A I R S p.20
. . . . . . g.5900
CGTCTCATCGATACTTTCTCTCTCATTGAGCATTTGCAAGGCTTGAGCCAAGCTGTGCCG c.120
R L I D T F S L I E H L Q G L S Q A V P p.40
. . | 03 . . . . g.6409
CGGCACACTATCAGGGAGTTACTTG | ATCCTTCCCGCCAGAAGAAACTTGTATTGGGAGAT c.180
R H T I R E L L D | P S R Q K K L V L G D p.60
. . . . . . g.6469
CAACACCAGCTAGTGCGTTTCTCTATAAAGCCTCAGCGTATAGAACAGATTTCACATGCC c.240
Q H Q L V R F S I K P Q R I E Q I S H A p.80
. . . . . . g.6529
CAGAGGCTGTTGAGCAGGCTTCATGTGCGCTGCAGTCAGAGGCCACCTCTTTCTTTGTGG c.300
Q R L L S R L H V R C S Q R P P L S L W p.100
. | 04 . . . . g.6764
GCCGGATGGGTCCTTGAGT | GTCCTCTCTTCAAAAACTTCATCATCTTCCTGGTCTTTTTG c.360
A G W V L E C | P L F K N F I I F L V F L p.120
. . | 05 . . . g.13377
AATACGATCATATTGATGGTTGAAATAG | AATTGCTGGAATCCACAAATACCAAACTATGG c.420
N T I I L M V E I E | L L E S T N T K L W p.140
. . . . . . g.13437
CCATTGAAGCTGACCTTGGAGGTGGCAGCTTGGTTTATCTTGCTTATTTTCATCCTGGAG c.480
P L K L T L E V A A W F I L L I F I L E p.160
. . . . . . g.13497
ATCCTTCTTAAGTGGCTATCCAACTTTTCTGTTTTCTGGAAGAGTGCCTGGAATGTCTTT c.540
I L L K W L S N F S V F W K S A W N V F p.180
. . | 06 . . . . g.14082
GACTTTGTTGTTACCATGTTG | TCCCTGCTTCCCGAGGTTGTGGTATTGGTAGGGGTAACA c.600
D F V V T M L | S L L P E V V V L V G V T p.200
. . . . . . g.14142
GGCCAATCGGTGTGGCTTCAGCTTCTGAGGATCTGCCGGGTGCTGAGGTCTCTCAAACTC c.660
G Q S V W L Q L L R I C R V L R S L K L p.220
. . . . . | 07. g.14816
CTTGCACAATTCCGTCAAATTCAAATTATTATTTTGGTCCTGGTCAGGGCCCTCAAG | AGC c.720
L A Q F R Q I Q I I I L V L V R A L K | S p.240
. . . . . . g.14876
ATGACCTTCCTCTTGATGTTGCTGCTCATCTTCTTCTACATTTTTGCTGTGACTGGTGTC c.780
M T F L L M L L L I F F Y I F A V T G V p.260
. . . . . . g.14936
TACGTCTTCTCAGAGTACACCCGTTCACCTCGTCAGGACCTGGAGTACCATGTGTTCTTC c.840
Y V F S E Y T R S P R Q D L E Y H V F F p.280
| 08 . . . . . . g.17680
TC | GGACCTCCCGAATTCCCTGGTAACAGTGTTCATTCTCTTCACCTTGGATCATTGGTAT c.900
S | D L P N S L V T V F I L F T L D H W Y p.300
. . . . . . g.17740
GCACTGCTTCAGGACGTCTGGAAGGTGCCTGAAGTCAGTCGCATCTTCAGCAGCATCTAT c.960
A L L Q D V W K V P E V S R I F S S I Y p.320
. . . . . . g.17800
TTCATCCTTTGGTTGTTGCTTGGCTCCATTATCTTTCGAAGTATCATAGTAGCCATGATG c.1020
F I L W L L L G S I I F R S I I V A M M p.340
| 09 . . . . . . g.18074
G | TTACTAACTTTCAGAATATCAGGAAAGAGCTGAATGAGGAGATGGCGCGTCGGGAGGTT c.1080
V | T N F Q N I R K E L N E E M A R R E V p.360
. . . . | 10 . . g.18444
CAGCTCAAAGCTGACATGTTCAAGCGGCAGATCATCCAGAG | GAGAAAAAACATGTCACAT c.1140
Q L K A D M F K R Q I I Q R | R K N M S H p.380
. . . | 11 . . g.20929
GAAGCACTGACGTCAAGCCATAGCAAAATAGAGGACAG | TTCAAGAGGAGCTAGTCAACAA c.1200
E A L T S S H S K I E D S | S R G A S Q Q p.400
. . . . . . g.20989
AGGGAAAGTTTGGACTTATCAGAAGTGTCTGAAGTAGAGTCTAATTATGGTGCCACTGAA c.1260
R E S L D L S E V S E V E S N Y G A T E p.420
. . . . . . g.21049
GAGGATTTAATAACATCTGCATCAAAAACAGAAGAGACCTTGTCAAAAAAGAGAGAGTAC c.1320
E D L I T S A S K T E E T L S K K R E Y p.440
. . . . . . g.21109
CAGTCTTCCTCCTGTGTCTCCTCCACATCCTCTTCCTATTCTTCCTCTTCTGAATCCAGA c.1380
Q S S S C V S S T S S S Y S S S S E S R p.460
. | 12 . . . . . g.21522
TTTTCTGAATCTATTG | GTCGTTTGGACTGGGAGACTCTTGTGCACGAAAATCTGCCCGGG c.1440
F S E S I G | R L D W E T L V H E N L P G p.480
. . . . . . g.21582
CTAATGGAAATGGATCAGGATGACCGTGTTTGGCCCAGAGACTCACTCTTCCGATATTTT c.1500
L M E M D Q D D R V W P R D S L F R Y F p.500
. . . . . . g.21642
GAGTTGCTAGAAAAGCTTCAGTATAACCTAGAGGAACGTAAGAAGTTACAAGAGTTTGCA c.1560
E L L E K L Q Y N L E E R K K L Q E F A p.520
| 13 . . . g.23168
G | TGCAGGCACTGATGAACTTGGAAGACAAGTAA c.1593
V | Q A L M N L E D K X p.530
. . . . . . g.23228
agcaatggatggcttcaatatccttgggcccagcaaaagataatgaagggaattgttgga c.*60
. . . . . . g.23288
aatagagaattgaaaatataaacattcagatagaacaatgtctgttcattaaaattaaaa c.*120
g.23295
agtataa c.*127
(downstream sequence)
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