(used for variant description)
(last modified October 31, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_003835.3 in the RGS9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering RGS9 transcript NM_003835.3.
(upstream sequence)
. . g.5023
gattggctggcgcggattccagc c.-181
. . . . . . g.5083
tgctttccaagtcagcggcgcctagtgagagtcaggggggcccggcccgcgccctccccg c.-121
. . . . . . g.5143
cccagccgcctccccgtcgacgcccagggctggggcgagccaggctgcctttcgaacttg c.-61
. . . . . . g.5203
gggggcttctcctcttgtctcccactggtgctctggctgtgaatccatccaggggccagg c.-1
. . . . . | 02. g.21087
ATGACAATCCGACACCAAGGCCAGCAGTACAGGCCGAGGATGGCATTTCTCCAAAAG | ATT c.60
M T I R H Q G Q Q Y R P R M A F L Q K | I p.20
. . . . . . g.21147
GAAGCGCTCGTGAAGGACATGCAGAACCCAGAGACAGGGGTCCGAATGCAGAACCAGAGG c.120
E A L V K D M Q N P E T G V R M Q N Q R p.40
. . . | 03 . . . g.25983
GTCCTGGTCACCAGCGTTCCTCATGCCATGACAG | GAAGTGATGTTCTGCAATGGATCGTC c.180
V L V T S V P H A M T G | S D V L Q W I V p.60
. . | 04 . . . . g.27930
CAGCGGCTTTGGATCTCCAGTCTGG | AGGCACAGAACTTGGGCAACTTTATTGTCAGGTAT c.240
Q R L W I S S L E | A Q N L G N F I V R Y p.80
. . . . . . g.27990
GGCTACATTTACCCCCTGCAAGACCCCAAGAATCTCATTCTCAAGCCTGATGGCAGCCTC c.300
G Y I Y P L Q D P K N L I L K P D G S L p.100
. | 05 . . . . . g.28246
TACAGATTTCAG | ACACCGTATTTCTGGCCCACCCAGCAGTGGCCAGCTGAAGATACCGAT c.360
Y R F Q | T P Y F W P T Q Q W P A E D T D p.120
| 06 . . . . . . g.28569
TACG | CCATCTATCTGGCCAAGCGAAATATCAAAAAGAAAGGGATTTTGGAAGAATATGAA c.420
Y A | I Y L A K R N I K K K G I L E E Y E p.140
| 07 . . . . . . g.30732
AAG | GAAAATTACAATTTCTTGAACCAAAAAATGAACTATAAGTGGGACTTTGTCATTATG c.480
K | E N Y N F L N Q K M N Y K W D F V I M p.160
. . | 08 . . . . g.35902
CAGGCCAAAGAGCAGTACAG | GGCTGGAAAGGAGAGGAACAAAGCAGACAGATATGCCCTG c.540
Q A K E Q Y R | A G K E R N K A D R Y A L p.180
. . . . | 09 . . g.45412
GACTGCCAGGAGAAGGCATACTGGCTGGTGCACCGATGCCCT | CCTGGAATGGACAATGTG c.600
D C Q E K A Y W L V H R C P | P G M D N V p.200
. . . . . | 10 . g.56954
CTGGACTACGGCCTGGACCGAGTGACCAATCCGAATGAAGTCAAGGTAAACCAG | AAACAA c.660
L D Y G L D R V T N P N E V K V N Q | K Q p.220
. . | 11 . . . . g.57873
ACAGTCGTTGCTGTCAAAAAAGAG | ATCATGTATTACCAACAGGCCTTGATGAGGTCCACA c.720
T V V A V K K E | I M Y Y Q Q A L M R S T p.240
. . | 12 . . . . g.61239
GTGAAGTCTTCTGTGTCCCTGGGAGG | GATTGTGAAATACAGTGAGCAGTTCTCATCCAAC c.780
V K S S V S L G G | I V K Y S E Q F S S N p.260
. . . . . . g.61299
GATGCCATCATGTCAGGCTGCCTCCCCAGCAACCCCTGGATCACCGATGACACCCAGTTC c.840
D A I M S G C L P S N P W I T D D T Q F p.280
. . | 13 . . . . g.64828
TGGGACTTAAATGCCAAATT | GGTGGAAATCCCAACCAAGATGCGAGTGGAACGATGGGCC c.900
W D L N A K L | V E I P T K M R V E R W A p.300
. . . . . . g.64888
TTCAACTTCAGCGAATTGATCCGAGACCCCAAAGGTCGACAGAGCTTCCAGTACTTCCTC c.960
F N F S E L I R D P K G R Q S F Q Y F L p.320
. | 14 . . . . . g.69699
AAGAAAGAATTCAGTG | GAGAGAATCTGGGATTCTGGGAAGCCTGCGAGGATCTGAAGTAT c.1020
K K E F S G | E N L G F W E A C E D L K Y p.340
. . . . | 15 . . g.71841
GGAGATCAGTCCAAAGTCAAGGAGAAAGCAGAGGAGATTTACAA | GCTGTTCCTGGCCCCG c.1080
G D Q S K V K E K A E E I Y K | L F L A P p.360
. . . . . . g.71901
GGGGCGAGGCGCTGGATCAACATAGATGGCAAAACCATGGACATCACAGTGAAGGGGCTG c.1140
G A R R W I N I D G K T M D I T V K G L p.380
. . . . . . g.71961
AAGCACCCCCACCGCTATGTGCTGGACGCCGCACAAACCCACATTTACATGCTCATGAAG c.1200
K H P H R Y V L D A A Q T H I Y M L M K p.400
| 16 . . . . . . g.75641
AAG | GATTCTTATGCTCGCTATTTAAAATCTCCGATCTATAAGGACATGCTGGCCAAAGCT c.1260
K | D S Y A R Y L K S P I Y K D M L A K A p.420
. . | 17 . . . g.78181
ATTGAACCTCAGGAAACCACCAAGAAAAG | CTCCACCCTCCCTTTTATGCGGCGTCACCTG c.1320
I E P Q E T T K K S | S T L P F M R R H L p.440
. . . . . . g.78241
CGCTCCAGCCCAAGCCCTGTCATCCTGAGACAGCTGGAAGAGGAAGCCAAGGCCCGAGAA c.1380
R S S P S P V I L R Q L E E E A K A R E p.460
. . | 18. . . . g.92697
GCAGCCAACACTGTGGACATCACCCAG | CCGGGCCAGCACATGGCTCCCAGCCCCCATCTG c.1440
A A N T V D I T Q | P G Q H M A P S P H L p.480
. . . . . . g.92757
ACCGTGTACACCGGGACCTGCATGCCCCCGTCTCCTTCTAGCCCCTTCTCCTCCTCCTGC c.1500
T V Y T G T C M P P S P S S P F S S S C p.500
. . . . . . g.92817
CGCTCCCCCAGGAAGCCTTTCGCCTCACCCAGCCGCTTCATCCGGCGACCCAGCACCACC c.1560
R S P R K P F A S P S R F I R R P S T T p.520
. . . . . . g.92877
ATCTGCCCCTCACCCATCAGAGTGGCCTTGGAGAGCTCATCGGGCTTGGAGCAGAAAGGG c.1620
I C P S P I R V A L E S S S G L E Q K G p.540
. . . . . . g.92937
GAGTGCAGCGGGTCCATGGCCCCCCGTGGGCCCTCTGTCACCGAGAGCAGCGAGGCCTCC c.1680
E C S G S M A P R G P S V T E S S E A S p.560
. . . . . . g.92997
CTCGACACCTCCTGGCCTCGCAGCCGGCCCAGGGCCCCTCCTAAGGCCCGCATGGCTCTG c.1740
L D T S W P R S R P R A P P K A R M A L p.580
. . . . . . g.93057
TCCTTCAGCAGGTTTCTGAGACGAGGCTGTCTGGCCTCACCTGTCTTTGCCAGGCTCTCA c.1800
S F S R F L R R G C L A S P V F A R L S p.600
. . . . . . g.93117
CCCAAGTGCCCTGCTGTGTCCCACGGGAGGGTGCAGCCCCTGGGGGACGTGGGCCAGCAG c.1860
P K C P A V S H G R V Q P L G D V G Q Q p.620
. . . | 19 . . . g.94965
CTGCCACGATTGAAATCCAAGAGAGTAGCAAA | CTTTTTCCAGATCAAAATGGATGTGCCC c.1920
L P R L K S K R V A N | F F Q I K M D V P p.640
. . . . . . g.95025
ACGGGGAGCGGGACCTGCTTGATGGACTCGGAGGATGCTGGAACAGGAGAGTCGGGTGAC c.1980
T G S G T C L M D S E D A G T G E S G D p.660
. . . . g.95070
CGGGCCACAGAAAAGGAGGTCATCTGCCCCTGGGAGAGCCTGTAA c.2025
R A T E K E V I C P W E S L X p.674
. . . . . . g.95130
ggaaagaggcaggctgagctgggggctctggaccaggaagatgctctgacagatgccatg c.*60
. . . . . . g.95190
gtatgggccacaggacacacttgctcgagaaccaaagtgcatttgggtgacatttgaaga c.*120
. . . . . . g.95250
ttggggagacaagatggggtagattgtggcaaagaatgctctggctggttaccaggggcc c.*180
. . . . . . g.95310
aactccttctcctcttcctgaccctccctcccctgggcagaagaaacgcatgtggaccag c.*240
. . . . . g.95366
aagactttccctgctgccttaaaaccaataaaaggttaactttaagtttcttggaa c.*296
(downstream sequence)
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