(used for variant description)
(last modified November 5, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_030948.2 in the PHACTR1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering PHACTR1 transcript NM_030948.2.
(upstream sequence)
. g.5013
aagctgttcattt c.-361
. . . . . . g.5073
gtgcttgcgggctcagaagcgtcgcactgctttgttttgtactctaccgtgtcctgttga c.-301
. . | 02 . . . g.5745
aaggggtcaacaagtgccg | gggagggtgcagaggctgaggctggcgtcaccttccgttgc c.-241
. . . . . . g.5805
taaggtaacgtgctctggccattttatctgataaaggaagtccagtggactgtatgcatt c.-181
. . . . . . g.5865
attcatcactgttctaatcaaacaatcaaaatcgtttactttcaccgggaatatttagca c.-121
. . . . . . g.5925
agatcaaagacactctggctggaacggctcttgttttaccgctgacagatagcctttgat c.-61
. . | 03 . . . . g.6940
ttttattttttgca | gtgttccagtgttttctctcaaaactctgtgtttggaacatcaagg c.-1
. . . . . . g.7000
ATGGATTATCCCAAAATGGATTATTTTCTGGATGTAGAGTCTGCTCACAGACTCTTGGAT c.60
M D Y P K M D Y F L D V E S A H R L L D p.20
. . . . | 04 . . g.37856
GTTGAGTCAGCTCAAAGATTCTTCTACAGTCAAGGAGCTCAAG | CTCGCCGGGCGACCCTG c.120
V E S A Q R F F Y S Q G A Q A | R R A T L p.40
. . . . . . g.37916
CTCCTGCCTCCCACATTAATGGCGGCATCCTCGGAGGATGATATAGACCGGCGGCCCATC c.180
L L P P T L M A A S S E D D I D R R P I p.60
. . . . . . g.37976
CGGAGAGTGCGCTCCAAGAGCGACACGCCGTACCTCGCAGAGGCCAGGATCTCCTTTAAC c.240
R R V R S K S D T P Y L A E A R I S F N p.80
. | 05 . . . . . g.341610
CTGGGGGCAG | CTGAGGAAGTGGAGAGGCTGGCGGCGATGCGTTCTGACTCCCTCGTCCCA c.300
L G A A | E E V E R L A A M R S D S L V P p.100
. . . . . . g.341670
GGCACCCACACCCCACCCATCCGCAGGAGAAGTAAGTTTGCCAACCTGGGAAGGATTTTC c.360
G T H T P P I R R R S K F A N L G R I F p.120
. . . . . | 06 . g.448404
AAGCCTTGGAAATGGAGGAAGAAGAAAAGCGAAAAGTTCAAACACACGTCAGCAG | CCCTG c.420
K P W K W R K K K S E K F K H T S A A | L p.140
. . . . . . g.448464
GAAAGGAAAATATCTATGAGGCAAAGCAGAGAAGAGCTGATAAAGCGAGGAGTCCTGAAG c.480
E R K I S M R Q S R E E L I K R G V L K p.160
. | 07 . . . . . g.470758
GAAATCTATGATAAAG | ATGGGGAACTCTCTATATCCAATGAAGAGGACTCCCTAGAAAAT c.540
E I Y D K D | G E L S I S N E E D S L E N p.180
. . . . . . g.470818
GGGCAGTCCCTGAGCTCCAGCCAGCTGTCTCTGCCTGCCCTGTCCGAAATGGAGCCAGTC c.600
G Q S L S S S Q L S L P A L S E M E P V p.200
. . . . . . g.470878
CCAATGCCCAGGGATCCCTGCTCATATGAGGTGCTCCAACCGTCAGACATCATGGATGGG c.660
P M P R D P C S Y E V L Q P S D I M D G p.220
| 08 . . . . . . g.494066
CCAG | ATCCTGGCGCCCCTGTGAAATTGCCTTGTCTGCCAGTGAAACTGTCGCCTCCGCTA c.720
P D | P G A P V K L P C L P V K L S P P L p.240
. . . . . . g.494126
CCTCCAAAGAAAGTCATGATCTGTATGCCCGTGGGGGGGCCAGACCTCTCACTGGTGTCC c.780
P P K K V M I C M P V G G P D L S L V S p.260
. . . . . . g.494186
TACACAGCCCAGAAGAGTGGCCAGCAGGGTGTGGCCCAGCACCACCACACTGTCCTGCCC c.840
Y T A Q K S G Q Q G V A Q H H H T V L P p.280
. . . . . . g.494246
TCCCAGATCCAGCACCAGCTGCAGTACGGCAGCCACGGCCAGCACCTCCCCTCCACCACC c.900
S Q I Q H Q L Q Y G S H G Q H L P S T T p.300
. . . . . . g.494306
GGCTCCCTCCCCATGCACCCCTCGGGCTGCAGAATGATAGACGAGCTCAACAAAACGCTG c.960
G S L P M H P S G C R M I D E L N K T L p.320
. . | 09 . . . . g.516045
GCCATGACCATGCAGAGGCTGGAAAG | CTCTGAGCAGCGGGTCCCCTGTTCCACTTCTTAC c.1020
A M T M Q R L E S | S E Q R V P C S T S Y p.340
. . . . . . g.516105
CACAGCTCTGGGTTGCACTCGGGTGATGGGGTCACCAAAGCAGGACCTATGGGCCTTCCA c.1080
H S S G L H S G D G V T K A G P M G L P p.360
. . . . . . g.516165
GAAATAAGACAAGTGCCAACTGTTGTGATTGAATGTGATGACAATAAAGAAAATGTGCCT c.1140
E I R Q V P T V V I E C D D N K E N V P p.380
. . . . . . g.516225
CATGAGTCAGACTACGAAGACTCTTCTTGCCTGTATACAAGAGAAGAGGAGGAAGAGGAG c.1200
H E S D Y E D S S C L Y T R E E E E E E p.400
. . . | 10 . . . g.518258
GAGGACGAAGACGACGACAGCTCATTATACACCA | GCTCCCTGGCCATGAAGGTCTGCAGG c.1260
E D E D D D S S L Y T S | S L A M K V C R p.420
. . . . . . g.518318
AAGGACTCCTTAGCCATCAAACTCAGCAACAGGCCCTCCAAGCGAGAGCTGGAAGAAAAG c.1320
K D S L A I K L S N R P S K R E L E E K p.440
. . . . . . g.518378
AACATCCTTCCCAGGCAGACGGATGAGGAGCGGCTGGAGCTGAGGCAACAGATTGGCACC c.1380
N I L P R Q T D E E R L E L R Q Q I G T p.460
. | 11 . . . . . g.561104
AAGCTCACCAG | GCGGCTGAGCCAGAGGCCAACTGCAGAGGAACTGGAACAGAGGAACATT c.1440
K L T R | R L S Q R P T A E E L E Q R N I p.480
| 12. . . . . . g.566516
TTGAAAC | CTCGGAATGAACAAGAGGAACAGGAGGAGAAGAGAGAGATCAAGAGGAGGCTA c.1500
L K P | R N E Q E E Q E E K R E I K R R L p.500
| 13 . . . . . g.571668
ACCCGAAAG | CTCAGTCAAAGGCCCACGGTGGAAGAGCTTCGGGAAAGAAAGATCCTCATC c.1560
T R K | L S Q R P T V E E L R E R K I L I p.520
. . . . . . g.571728
CGCTTCAGTGACTACGTGGAGGTGGCTGACGCTCAGGACTATGACCGCAGGGCAGATAAG c.1620
R F S D Y V E V A D A Q D Y D R R A D K p.540
. . . | 14 . . . g.574371
CCGTGGACCCGCCTCACCGCTGCAGACAAA | GCTGCCATCCGAAAGGAGCTCAATGAATTC c.1680
P W T R L T A A D K | A A I R K E L N E F p.560
. . . . | 15. . g.575271
AAAAGCACTGAGATGGAAGTTCATGAATTGAGTAGACACTTAACAAG | GTTTCACCGACCT c.1740
K S T E M E V H E L S R H L T R | F H R P p.580
g.575274
TAA c.1743
X p.580
. . . . . . g.575334
cagtcgaattcctcttgagtgctatgctgtcttcaaaacataaatttataagaaccataa c.*60
. . . . . . g.575394
gtgctggtatttattcacttccccattacgatgtaaatcttctgaactgcctttttttta c.*120
. . . . . . g.575454
aaaagaagaaaaatcaaggaaacacaatcaggattttatgtgtgaaaacgcaaaagtgat c.*180
. . . . . . g.575514
ggctcggcggtccgagctgctggtcccacttctgacaccaaaatgcatcccaacccccgg c.*240
. . . . . . g.575574
cagtgccaagggcaccagcagggccctgactgaagactgtctggcaggtggaacggtcct c.*300
. . . . . . g.575634
tgtcctctccagccaggcccagcaggcactaccttcatgaagtctccagcaaacctcttc c.*360
. . . . . . g.575694
ctcacaagtgtctgtcatctgagtccaaagaaagctgaaggggtgggtttgttttggggg c.*420
. . . . . . g.575754
tactgtgcaaagctaatgatctggttggacttctacacttggccaaatgtactggctcca c.*480
. . . . . . g.575814
gacatgacatttggtttgggggccctttgaagttgatgccaagaaggagtgaacacttct c.*540
. . . . . . g.575874
cagttgcccctggcttttccctcctttcagccaccacccacacaatgaacaaaagggaag c.*600
. . . . . . g.575934
ggcccatttctgggggagtctggctgcctcttggctacgaaggctggcactgagcaccca c.*660
. . . . . . g.575994
tcctgctccctctgcctgagctgagctgcctttcaggaagctctggtttagaaggggaaa c.*720
. . . . g.576039
gatgtcatatgctcagttcaaataatcaacccaactgtgtccaga c.*765
(downstream sequence)
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