(used for variant description)
(last modified July 23, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_002578.3 in the PAK3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008288.1, covering PAK3 transcript NM_002578.3.
(upstream sequence)
. . g.156883
aatagcagagaagggctaggg c.-601
. . . . . . g.156943
agcggttgccgagcaggggctctaccgcgggcgggcagctgtgccagctaaccgtctggg c.-541
. . . . . . g.157003
atctcgcactgggggctgcagcttttccccgcctcgagccagtgtgcgggggcgggagaa c.-481
. . . . . . g.157063
gagccagggggagcgggctgggcccggggctgcggctgcggccgcggggctgcggctccc c.-421
. . . . . . g.157123
cagccccgccagctggagcgctcggaggtagaggaaaggtcttgacggggtggctggatc c.-361
. | 02. . . . . g.158157
cgtggcag | aatccagttccagattctagacttgagggttctgggctgttggtctgtagaa c.-301
. . | 03 . . . . g.158335
gcgaaggagagaagg | actcaaatccaggccaagtgtatggctgtctgaggtattggaaca c.-241
. . . . . . g.158395
gaaggaggtccattcctgttggtgacaacaccgtggccctgttctgggatgagcaaggtg c.-181
. | 04 . . . . . g.163929
taaag | gtttcccccaagaaagagcagctgagtccttgcatcttgtggcagctggtgtgcc c.-121
. . . . . . g.163989
cagcactgagtctgtaggagctgaagccagcccggacccttctcatgggcagtgcccacc c.-61
. . . . | 05 . . g.183819
tgtgctgaagtcctgcagcggtggcggtgtgag | gagctgtgaaattagttgtaactgaaa c.-1
. . . . . . g.183879
ATGTCTGACGGTCTGGATAATGAAGAGAAACCCCCGGCTCCTCCACTGAGGATGAATAGT c.60
M S D G L D N E E K P P A P P L R M N S p.20
. . . . . . g.183939
AACAACCGGGATTCTTCAGCACTCAACCACAGCTCCAAACCACTTCCCATGGCCCCTGAA c.120
N N R D S S A L N H S S K P L P M A P E p.40
. . . . . | 06 . g.202816
GAGAAGAATAAGAAAGCCAGGCTTCGCTCTATCTTCCCAGGAGGAGGGGATAAAA | CCAAT c.180
E K N K K A R L R S I F P G G G D K T | N p.60
. . . . . . g.202876
AAGAAGAAGGAGAAAGAGCGCCCAGAGATCTCTCTTCCTTCAGACTTTGAGCATACGATT c.240
K K K E K E R P E I S L P S D F E H T I p.80
. . . | 07 . . . g.208476
CATGTGGGGTTTGATGCAGTCACCGGGGAATTCACT | GGAATTCCAGAGCAATGGGCACGA c.300
H V G F D A V T G E F T | G I P E Q W A R p.100
. . . . . . g.208536
TTACTCCAAACTTCCAACATAACAAAATTGGAACAGAAGAAGAACCCACAAGCTGTTCTA c.360
L L Q T S N I T K L E Q K K N P Q A V L p.120
. . . . . . g.208596
GATGTTCTCAAATTCTATGATTCCAAAGAAACAGTCAACAACCAGAAATACATGAGCTTT c.420
D V L K F Y D S K E T V N N Q K Y M S F p.140
. | 08 . . . | 09 . g.223642
ACATCAGGAG | ATAAAAGTGCACATGGATACATAGCAGCCCATCCTTCG | AGTACAAAAACA c.480
T S G D | K S A H G Y I A A H P S | S T K T p.160
. . . . . . g.223702
GCATCTGAGCCTCCATTGGCCCCTCCTGTGTCTGAAGAAGAAGATGAAGAGGAAGAAGAA c.540
A S E P P L A P P V S E E E D E E E E E p.180
. . . . . . g.223762
GAAGAAGATGAAAATGAGCCACCACCAGTTATCGCACCAAGACCAGAGCATACAAAATCA c.600
E E D E N E P P P V I A P R P E H T K S p.200
| 10 . . . . . . g.224337
| ATCTATACTCGTTCTGTGGTTGAATCCATTGCTTCACCAGCAGTACCAAATAAAGAGGTC c.660
| I Y T R S V V E S I A S P A V P N K E V p.220
. . . . . . g.224397
ACACCACCCTCTGCTGAAAATGCCAATTCCAGTACTTTGTACAGGAACACAGATCGGCAA c.720
T P P S A E N A N S S T L Y R N T D R Q p.240
. . . . | 11 . . g.233747
AGAAAAAAATCCAAGATGACAGATGAGGAGATCTTAGAGAAGCTAA | GAAGCATTGTGAGT c.780
R K K S K M T D E E I L E K L R | S I V S p.260
. . . . . | 12 . g.252852
GTTGGGGACCCAAAGAAAAAATACACAAGATTTGAAAAAATTGGTCAAGG | GGCATCAGGT c.840
V G D P K K K Y T R F E K I G Q G | A S G p.280
. . . | 13 . . g.253242
ACTGTTTATACAGCACTAGACATTGCAACAGGACAAGAG | GTGGCCATAAAGCAGATGAAC c.900
T V Y T A L D I A T G Q E | V A I K Q M N p.300
. . . . . . g.253302
CTTCAACAGCAACCCAAGAAGGAATTAATTATTAATGAAATTCTGGTCATGAGGGAAAAT c.960
L Q Q Q P K K E L I I N E I L V M R E N p.320
. . . | 14 . . . g.255044
AAGAACCCTAATATTGTTAATTATTTAGATAG | CTACTTGGTGGGTGATGAACTATGGGTA c.1020
K N P N I V N Y L D S | Y L V G D E L W V p.340
. . . . . . g.255104
GTCATGGAATACTTGGCTGGTGGCTCTCTGACTGATGTGGTCACAGAGACCTGTATGGAT c.1080
V M E Y L A G G S L T D V V T E T C M D p.360
. . . | 15 . . . g.256587
GAAGGACAGATAGCAGCTGTCTGCAGAGAG | TGCCTGCAAGCTTTGGATTTCCTGCACTCA c.1140
E G Q I A A V C R E | C L Q A L D F L H S p.380
. . . . . . g.256647
AACCAGGTGATCCATAGAGATATAAAGAGTGACAATATTCTTCTCGGGATGGATGGCTCT c.1200
N Q V I H R D I K S D N I L L G M D G S p.400
. | 16 . . . . . g.257209
GTTAAATTGA | CTGACTTTGGGTTCTGTGCCCAGATCACTCCTGAGCAAAGTAAACGAAGC c.1260
V K L T | D F G F C A Q I T P E Q S K R S p.420
. . . . . . g.257269
ACTATGGTGGGAACCCCATATTGGATGGCACCTGAGGTGGTGACTCGAAAAGCTTATGGT c.1320
T M V G T P Y W M A P E V V T R K A Y G p.440
. . . . . . g.257329
CCGAAAGTTGATATCTGGTCTCTTGGAATTATGGCAATTGAAATGGTGGAAGGTGAACCC c.1380
P K V D I W S L G I M A I E M V E G E P p.460
. . | 17. . . . g.277169
CCTTACCTTAATGAAAATCCACTCAGG | GCATTGTATCTGATAGCCACTAATGGAACTCCA c.1440
P Y L N E N P L R | A L Y L I A T N G T P p.480
. . . . . . g.277229
GAGCTCCAGAATCCTGAGAGACTGTCAGCTGTATTCCGTGACTTTTTAAATCGCTGTCTT c.1500
E L Q N P E R L S A V F R D F L N R C L p.500
. . . . | 18 . . g.281088
GAGATGGATGTGGATAGGCGAGGATCTGCCAAGGAGCTTTTGCAG | CATCCATTTTTAAAA c.1560
E M D V D R R G S A K E L L Q | H P F L K p.520
. . . . . . g.281148
TTAGCCAAGCCTCTCTCCAGCCTGACTCCTCTGATTATCGCTGCAAAGGAAGCAATTAAG c.1620
L A K P L S S L T P L I I A A K E A I K p.540
. g.281163
AACAGCAGCCGCTAA c.1635
N S S R X p.544
. . . . . . g.281223
gactgcaagccttacacctcaccatctccctcatgagtaagactgaaataaaactctgct c.*60
. . . . . . g.281283
gcaggaaagatggaagaaaagacagtcaaatggggtgggggttctttacctttcaaatga c.*120
. . . . . . g.281343
atagaaacttcttataagcctttttcctactccctcagattatgtaatttatttgtaagc c.*180
. . . . . . g.281403
ctgaatcgcagcccaaacagggcagcaatgttgaagtgaccataaagtggtcacttccac c.*240
. . . . . . g.281463
cgtgaagcgaaagagccagtagtgaatcccctcattttgtgcattcactttgaagaaaaa c.*300
. . . . . . g.281523
ggtttctcaaagatgcacactccctcttcatagtgttgtgtttgtttttaagttagagag c.*360
. . . . . . g.281583
tagtccctcttgcattcaaacctccttcaaaactccttacccaatgtgatgtttttcact c.*420
. . . . . . g.281643
tgcattgtcattagatgtccagaaaaaaaaaagatgtcaaaatgtttttctaaaaaaaga c.*480
. g.281661
aagcaaaaaaagcaaggc c.*498
(downstream sequence)
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