(used for variant description)
(last modified October 7, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_182982.2 in the GRK4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029102.1, covering GRK4 transcript NM_182982.2.
(upstream sequence)
. . . g.5035
agccgttagcgccgagcccgcccgggagcgggtcg c.-421
. . . . . . g.5095
ccggccgcggcgggcgcccctgccagtgagcccctgtccgaagtgagccacggcattgac c.-361
. . . . . . g.5155
tcggggctgcccgggggcagggcactgaggagggagttgcgcgcgcgaggcgagggcgat c.-301
. . . . . . g.5215
ggggccaagaagaaccggggcgatagcgcggcagcggtgacagctgggacccgccgcggt c.-241
. . . . . . g.5275
cgggctgccccctcccctcgccccgaccgctcccctgctggtgagggcctgcggaggcgg c.-181
. . . . . . g.5335
cggcggcggcgcccttggtggcagtggtggcggcggagcagcctcccgggatcgtgtccg c.-121
. . . . . . g.5395
gagctcgaggagagggtggtgcccggcgagctatgcacgggggcggcggcgtctcctcct c.-61
. . . . . . g.5455
gttccgcctcctcagtctcctcggtctcgcagaatccgccggcggcggcggcgccaggac c.-1
. . . . . | 02 . g.25905
ATGGAGCTCGAGAACATCGTGGCCAACTCGCTGCTGCTGAAAGCGCGTCAAG | GAGGATAT c.60
M E L E N I V A N S L L L K A R Q G | G Y p.20
. . . . . . g.25965
GGCAAAAAAAGTGGTCGTAGTAAAAAATGGAAGGAGATACTGACACTGCCTCCTGTCAGC c.120
G K K S G R S K K W K E I L T L P P V S p.40
. . | 03 . . . g.30143
CAGTGCAGTGAGCTTAGACATTCCATTG | AAAAGGATTATAGCAGTCTTTGTGACAAGCAA c.180
Q C S E L R H S I E | K D Y S S L C D K Q p.60
. . . . . . g.30203
CCGATAGGAAGACGTCTCTTCAGGCAGTTCTGTGATACCAAACCCACTCTAAAGAGGCAC c.240
P I G R R L F R Q F C D T K P T L K R H p.80
. . | 04 . . . . g.33638
ATTGAATTCTTGGATGCAGTG | GCAGAATATGAAGTTGCCGATGATGAGGACCGAAGTGAT c.300
I E F L D A V | A E Y E V A D D E D R S D p.100
. . . | 05 . . g.45636
TGTGGACTGTCAATCTTAGATAGATTCTTCAATGATAAG | TTGGCAGCCCCTTTACCAGAA c.360
C G L S I L D R F F N D K | L A A P L P E p.120
. . . . . . g.45696
ATACCTCCAGATGTTGTGACAGAATGTAGATTGGGACTGAAGGAGGAGAACCCTTCCAAA c.420
I P P D V V T E C R L G L K E E N P S K p.140
. . | 06 . . . . g.49157
AAAGCCTTTGAGGAATGTACTAG | AGTTGCCCATAACTACCTAAGAGGGGAACCATTTGAA c.480
K A F E E C T R | V A H N Y L R G E P F E p.160
. . . . . | 07 . g.51036
GAATACCAAGAAAGCTCATATTTTTCTCAGTTTTTACAATGGAAATGGCTGGAAAG | GCAA c.540
E Y Q E S S Y F S Q F L Q W K W L E R | Q p.180
. . . . . . g.51096
CCCGTAACAAAGAACACATTTAGACATTACAGAGTTCTAGGAAAAGGCGGATTTGGAGAG c.600
P V T K N T F R H Y R V L G K G G F G E p.200
| 08 . . . . . . g.55132
| GTTTGCGCCTGTCAAGTGCGAGCCACAGGAAAAATGTATGCCTGCAAAAAGCTACAAAAA c.660
| V C A C Q V R A T G K M Y A C K K L Q K p.220
. . . . . . g.55192
AAAAGAATAAAGAAGAGGAAAGGTGAAGCTATGGCTCTAAATGAGAAAAGAATTCTGGAG c.720
K R I K K R K G E A M A L N E K R I L E p.240
. . | 09 . . . . g.61064
AAAGTGCAAAGTAGATTCGTA | GTTAGTTTAGCCTACGCTTATGAAACCAAAGATGCCTTG c.780
K V Q S R F V | V S L A Y A Y E T K D A L p.260
. . . . . . g.61124
TGCTTGGTGCTCACCATTATGAATGGAGGGGATTTGAAGTTTCACATTTACAACCTGGGC c.840
C L V L T I M N G G D L K F H I Y N L G p.280
. . . . . . g.61184
AATCCCGGCTTTGATGAGCAGAGAGCCGTTTTCTATGCTGCAGAGCTGTGTTGCGGCTTG c.900
N P G F D E Q R A V F Y A A E L C C G L p.300
. . . | 10 . . . g.63826
GAAGATTTACAGAGGGAAAGAATTGTATACAG | AGACTTGAAGCCTGAGAATATTCTCCTT c.960
E D L Q R E R I V Y R | D L K P E N I L L p.320
. | 11 . . . . . g.69346
GATGATCGTG | GACACATCCGGATTTCAGACCTCGGTTTGGCCACAGAGATCCCAGAAGGA c.1020
D D R G | H I R I S D L G L A T E I P E G p.340
. . . . | 12 . . g.70605
CAGAGGGTTCGAGGAAGAGTTGGAACAGTCGGCTACATGG | CACCTGAAGTTGTCAATAAT c.1080
Q R V R G R V G T V G Y M A | P E V V N N p.360
. . . . . . g.70665
GAAAAGTATACGTTTAGTCCCGATTGGTGGGGACTTGGCTGTCTGATCTATGAAATGATT c.1140
E K Y T F S P D W W G L G C L I Y E M I p.380
. . . . . . g.70725
CAGGGACATTCTCCATTCAAAAAATACAAAGAGAAAGTCAAATGGGAGGAGGTCGATCAA c.1200
Q G H S P F K K Y K E K V K W E E V D Q p.400
. . . . . . g.70785
AGAATCAAGAATGATACCGAGGAGTATTCTGAGAAGTTTTCAGAGGATGCCAAATCTATC c.1260
R I K N D T E E Y S E K F S E D A K S I p.420
| 13 . . . . . g.76821
TGCAGGATG | TTACTCACCAAGAATCCAAGCAAGCGGCTGGGCTGCAGGGGCGAGGGAGCG c.1320
C R M | L L T K N P S K R L G C R G E G A p.440
. . . . . . g.76881
GCTGGGGTGAAGCAGCACCCCGTGTTCAAGGACATCAACTTCAGGAGGCTGGAGGCAAAC c.1380
A G V K Q H P V F K D I N F R R L E A N p.460
. . | 14. . . . g.78791
ATGCTGGAGCCCCCTTTCTGTCCTGAT | CCTCATGCCGTTTACTGTAAGGACGTCCTGGAT c.1440
M L E P P F C P D | P H A V Y C K D V L D p.480
. . . . . . g.78851
ATCGAGCAGTTCTCGGTGGTGAAAGGGATCTACCTGGACACCGCAGATGAAGACTTCTAT c.1500
I E Q F S V V K G I Y L D T A D E D F Y p.500
. . . . | 15 . . g.79775
GCTCGGTTTGCTACCGGGTGTGTCTCCATCCCCTGGCAGAATGAG | ATGATCGAATCTGGG c.1560
A R F A T G C V S I P W Q N E | M I E S G p.520
. . . . . . g.79835
TGTTTCAAAGACATCAACAAAAGTGAAAGTGAGGAAGCTTTGCCATTAGATCTAGACAAG c.1620
C F K D I N K S E S E E A L P L D L D K p.540
. . . . . . g.79895
AACATACATACCCCGGTTTCCAGACCAAACAGAGGCTTCTTCTATAGACTCTTCAGAAGA c.1680
N I H T P V S R P N R G F F Y R L F R R p.560
| 16 . . . . . g.82013
GGG | GGCTGCCTGACCATGGTCCCCAGTGAGAAGGAAGTGGAACCCAAGCAATGCTGA c.1737
G | G C L T M V P S E K E V E P K Q C X p.578
. . . . . . g.82073
gcaccccggtgcggaccacagagcagaccctggcgccaggaaggagcatgtgttagcgtc c.*60
. . . . . . g.82133
tcgtcccacctggaattgtaataaatacatctaaataaaacatgccttgggagtgtacag c.*120
g.82135
ac c.*122
(downstream sequence)
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