(used for variant description)
(last modified October 26, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_130770.2 in the HTR3C gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012749.1, covering HTR3C transcript NM_130770.2.
(upstream sequence)
. . . g.5034
tggtgaatccccagagaagagtccagaaagaaga c.-1
. . . . . . g.5094
ATGGAAGGAGGGTGGCCTGCAAGGCAGAGTGCCCTCCTCTGCCTCACTGTCAGTCTTCTG c.60
M E G G W P A R Q S A L L C L T V S L L p.20
| 02. . . . . . g.6727
CTTCAAG | GAAGAGGCGACGCTTTTACCATCAATTGCTCAGGCTTTGACCAGCATGGGGTT c.120
L Q G | R G D A F T I N C S G F D Q H G V p.40
. . . . . . g.6787
GACCCTGCTGTCTTCCAAGCAGTGTTTGACAGAAAGGCCTTCCGTCCATTCACCAACTAC c.180
D P A V F Q A V F D R K A F R P F T N Y p.60
. . . . . | 03 . g.7271
AGCATCCCTACCCGTGTCAACATCTCCTTCACCCTGTCTGCCATCCTGGGAGTG | GATGCA c.240
S I P T R V N I S F T L S A I L G V | D A p.80
. . . | 04 . . g.8151
CAGCTCCAGCTGCTGACATCATTCCTGTGGATGGATTTG | GTATGGGACAATCCTTTCATT c.300
Q L Q L L T S F L W M D L | V W D N P F I p.100
. . . . . . g.8211
AATTGGAACCCAAAAGAGTGTGTTGGCATCAATAAACTCACAGTATTAGCTGAAAACCTG c.360
N W N P K E C V G I N K L T V L A E N L p.120
. . | 05 . . . g.8859
TGGCTCCCAGACATCTTCATCGTGGAATC | CATGGATGTGGATCAGACGCCTTCCGGTCTC c.420
W L P D I F I V E S | M D V D Q T P S G L p.140
. . . . . . g.8919
ACTGCCTATATCAGCAGTGAAGGTCGAATTAAGTATGATAAGCCAATGAGGGTGACCAGC c.480
T A Y I S S E G R I K Y D K P M R V T S p.160
. . . . . . g.8979
ATCTGTAACCTGGACATCTTCTACTTCCCTTTTGACCAACAGAACTGTACCTTCACCTTC c.540
I C N L D I F Y F P F D Q Q N C T F T F p.180
. | 06 . . . . g.10421
AGTTCTTTCCTCTACACAG | TGGACAGCATGCTGCTGGGCATGGACAAGGAGGTGTGGGAG c.600
S S F L Y T V | D S M L L G M D K E V W E p.200
. . . . . . g.10481
ATCACAGACACGTCTCGCAAAGTCATCCAAACCCAGGGGGAGTGGGAGCTCTTGGGCATC c.660
I T D T S R K V I Q T Q G E W E L L G I p.220
. . . . . . g.10541
AACAAGGCCACCCCAAAGATGTCCATGGGCAACAACCTATATGACCAGATCATGTTTTAT c.720
N K A T P K M S M G N N L Y D Q I M F Y p.240
| 07 . . . . . . g.11449
| GTGGCCATCAGGCGCAGGCCAAGCCTCTACATCATAAACCTGCTGGTGCCCAGTAGCTTT c.780
| V A I R R R P S L Y I I N L L V P S S F p.260
. . . . . . g.11509
CTGGTTGCCATTGATGCCCTCAGCTTCTACCTGCCAGCAGAGAGCGAGAATCGTGCCCCA c.840
L V A I D A L S F Y L P A E S E N R A P p.280
. . . . . . g.11569
TTCAAGATAACACTTCTGCTGGGCTACAACGTCTTCCTGCTCATGATGAATGACTTGCTC c.900
F K I T L L L G Y N V F L L M M N D L L p.300
. . | 08 . . . . g.11816
CCTGCCAGTGGCACCCCCCTCATCA | GTGTCTACTTCGCCCTGTGCCTGTCCCTGATGGTG c.960
P A S G T P L I S | V Y F A L C L S L M V p.320
. . . . . . g.11876
GTCAGCCTGCTGGAGACCGTCTTCATTACCTACCTGCTGCACGTGGCCACCACCCAGCCC c.1020
V S L L E T V F I T Y L L H V A T T Q P p.340
. . . . . . g.11936
CCACCCATGCCTAGGTGGCTTCACTCCCTGCTGCTCCACTGCACCAGCCCAGGGAGATGC c.1080
P P M P R W L H S L L L H C T S P G R C p.360
. . . . . . g.11996
TGTCCCACTGCGCCCCAGAAGGGAAATAAGGGCCTGGGTCTCACCCTCACCCACCTGCCT c.1140
C P T A P Q K G N K G L G L T L T H L P p.380
| 09 . . . . . . g.12162
G | GCCCAAAGGAGCCGGGGGAGTTAGCAGGGAAGAAGCTGGGACCCAGAGAGACCGAGCCA c.1200
G | P K E P G E L A G K K L G P R E T E P p.400
. . . . . . g.12222
GATGGGGGCTCAGGATGGACAAAGACCCAGCTAATGGAGCTGTGGGTGCAGTTCAGCCAC c.1260
D G G S G W T K T Q L M E L W V Q F S H p.420
. . . . . . g.12282
GCGATGGACACCCTGCTCTTCCGCCTCTACCTGCTCTTCATGGCCTCCTCCATCCTTACT c.1320
A M D T L L F R L Y L L F M A S S I L T p.440
. . g.12306
GTCATTGTCCTCTGGAACACCTAG c.1344
V I V L W N T X p.447
. . . . . . g.12366
gcagacatcccccctctctggcaaacaacagcttggagtttctgctggtcttgggccagc c.*60
. . . . . . g.12426
cggactcattttcctaatcttagccacttatccccagtgactaccatgtccccttctaaa c.*120
. . . . . . g.12486
ttccaaagactccaacgcagcactagcaagcaggttcgggacagccctggacgatttccc c.*180
. . . . . . g.12546
gaccgctgctcaggctgctcattcctgctcaccctcagtctccctgagctaccacctaac c.*240
. . . . . . g.12606
tcctcactccctgatcaatggaagtccaggtcagtggagtctctccttgattgatcaccc c.*300
. . g.12627
caataaacaactttccaggaa c.*321
(downstream sequence)
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