(used for variant description)
(last modified April 24, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_004312.2 in the ARR3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_050734.1, covering ARR3 transcript NM_004312.2.
(upstream sequence)
g.5008
gagctgga c.-61
. . . | 02 . . g.6051
gactgatgtgaacttcatctctctccccag | aaaaggctcaacatcaactatatagccaac c.-1
| 03 . . | 04 . . g.6529
ATGTCCAA | GGTGTTTAAGAAGACCAGCTCCAATGGGAAG | CTCTCCATCTACCTGGGGAAA c.60
M S K | V F K K T S S N G K | L S I Y L G K p.20
. . . . | 05 . . g.6785
CGGGACTTCGTGGACCATGTGGACACGGTGGAACCCATTG | ACGGTGTTGTCCTGGTTGAT c.120
R D F V D H V D T V E P I D | G V V L V D p.40
. . | 06 . . . . g.12782
CCTGAGTACTTAAAATGTCGAAAGT | TGTTTGTCATGTTGACATGTGCCTTTCGCTATGGC c.180
P E Y L K C R K L | F V M L T C A F R Y G p.60
. . . . . . g.12842
CGTGATGACTTGGAAGTGATTGGTCTGACGTTCCGAAAAGATCTGTATGTGCAGACCCTG c.240
R D D L E V I G L T F R K D L Y V Q T L p.80
. . . . . . g.12902
CAAGTGGTCCCAGCTGAATCCAGCAGCCCTCAGGGGCCCCTCACAGTCCTACAGGAGCGA c.300
Q V V P A E S S S P Q G P L T V L Q E R p.100
. . . . | 07 . . g.13113
CTACTGCACAAGCTAGGGGACAATGCCTACCCCTTTACCCTGCAG | ATGGTGACCAACCTG c.360
L L H K L G D N A Y P F T L Q | M V T N L p.120
. . . . | 08 . . g.13349
CCCTGTTCTGTGACACTGCAGCCAGGTCCTGAAGATGCAGGAAAG | CCCTGTGGGATTGAC c.420
P C S V T L Q P G P E D A G K | P C G I D p.140
. . . . . | 09 . g.14066
TTTGAAGTGAAGAGTTTCTGTGCTGAAAACCCAGAGGAGACAGTCTCCAAGAG | AGACTAT c.480
F E V K S F C A E N P E E T V S K R | D Y p.160
. . . . . . g.14126
GTGCGGCTGGTTGTCCGGAAAGTACAATTTGCACCACCGGAGGCAGGCCCTGGCCCCTCA c.540
V R L V V R K V Q F A P P E A G P G P S p.180
. . . . . . g.14186
GCCCAGACCATCCGCCGCTTCCTTCTGTCAGCTCAGCCCCTACAACTCCAGGCCTGGATG c.600
A Q T I R R F L L S A Q P L Q L Q A W M p.200
| 10 . . . . . g.14432
GACAGGGAG | GTTCACTACCACGGAGAACCCATCTCTGTCAATGTTTCTATCAACAACTGC c.660
D R E | V H Y H G E P I S V N V S I N N C p.220
. . . | 11 . . . g.14757
ACCAACAAGGTCATCAAAAAAATCAAGATTTCAG | TTGACCAGATCACAGATGTTGTCCTG c.720
T N K V I K K I K I S V | D Q I T D V V L p.240
. . . . | 12. . g.15182
TATTCACTAGACAAGTACACCAAGACTGTGTTCATTCAGGAATTCAC | GGAGACTGTAGCT c.780
Y S L D K Y T K T V F I Q E F T | E T V A p.260
. . . . . . g.15242
GCTAATTCCAGCTTCTCCCAGAGCTTTGCAGTAACCCCAATCCTGGCTGCCAGCTGCCAG c.840
A N S S F S Q S F A V T P I L A A S C Q p.280
. . . . . . g.15302
AAACGGGGCCTGGCACTGGATGGCAAACTTAAGCATGAAGATACCAACCTGGCCTCTAGC c.900
K R G L A L D G K L K H E D T N L A S S p.300
| 13 . . . . . . g.16915
ACAAT | TATTAGACCGGGAATGGACAAAGAGCTGCTGGGGATCCTGGTGTCCTACAAAGTC c.960
T I | I R P G M D K E L L G I L V S Y K V p.320
. . | 14 . . | 15 . g.17438
AGAGTCAACCTGATGGTGTCCTGTGGTGG | CATCCTAGGAGACCTGACAGCCAG | CGATGTT c.1020
R V N L M V S C G G | I L G D L T A S | D V p.340
. . . . | 16 . | 17 . g.18345
GGTGTGGAGCTACCCTTGGTCCTGATCCATCCGAAGCCATCTCATG | AGGCCGCTAG | CTCT c.1080
G V E L P L V L I H P K P S H E | A A S | S p.360
. . . . . . g.18405
GAGGACATAGTCATCGAGGAGTTTACGCGGAAAGGCGAGGAGGAGAGCCAGAAGGCTGTG c.1140
E D I V I E E F T R K G E E E S Q K A V p.380
. . g.18432
GAGGCTGAGGGAGATGAGGGGAGCTGA c.1167
E A E G D E G S X p.388
. . . . . . g.18492
gcacctcgctctggtgcccgtctgtgtgggagcccccactgtaacactctaataaatcag c.*60
. g.18506
tttgttcagatgtg c.*74
(downstream sequence)
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