(used for mutation description)
(last modified July 8, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_016648.2 in the LARP7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering LARP7 transcript NM_016648.2.
(upstream sequence)
. . . g.5038
aagccaaaaaccgccgctttcaaatcgccaatcaaatt c.-241
. . . . . . g.5098
cttccttggcttcgagtctctcagccggccgcgctctccgatgcccagccctcctggaac c.-181
. . . . . . g.5158
cacctcgcctgtgacgtaggtggagcgcgcactgcctccgggcccgtctttctcaattgg c.-121
. . . . . . g.5218
gaccggaaaacgttgtcgctcatcctatgacgcgaaagtaaccgagactatcaggatccg c.-61
. . . . . . | 02 g.12706
gagacggaaatgtccgaaggccgcagtacttgaccctgtattttgggagtcgaacgga | ga c.-1
. . . . . . g.12766
ATGGAAACTGAAAGTGGAAATCAGGAAAAGGTAATGGAAGAAGAAAGCACTGAAAAGAAA c.60
M E T E S G N Q E K V M E E E S T E K K p.20
. . . . . . g.12826
AAAGAAGTTGAAAAAAAGAAACGGTCACGAGTTAAACAGGTGCTTGCAGATATTGCTAAG c.120
K E V E K K K R S R V K Q V L A D I A K p.40
. . . . . . g.12886
CAAGTGGACTTCTGGTTTGGGGATGCAAATCTTCACAAGGATAGATTTCTTCGAGAACAG c.180
Q V D F W F G D A N L H K D R F L R E Q p.60
. . | 03 . . . . g.14425
ATAGAAAAATCTAGAGATGGAT | ATGTTGATATATCACTACTTGTGTCTTTTAACAAAATG c.240
I E K S R D G Y | V D I S L L V S F N K M p.80
. . . . . . g.14485
AAAAAATTGACTACTGATGGGAAGTTAATTGCCAGAGCATTGAGAAGTTCAGCTGTTGTA c.300
K K L T T D G K L I A R A L R S S A V V p.100
| 04 . . . . . . g.14681
GAG | CTTGATTTGGAAGGCACCAGAATCCGGAGGAAAAAACCTCTGGGGGAAAGACCAAAG c.360
E | L D L E G T R I R R K K P L G E R P K p.120
. . | 05. . . . g.14860
GATGAGGATGAACGCACAGTGTATGTG | GAGTTACTTCCCAAAAATGTTAATCACAGCTGG c.420
D E D E R T V Y V | E L L P K N V N H S W p.140
. . . . . . g.14920
ATTGAAAGAGTATTTGGGAAATGTGGCAATGTTGTTTATATAAGTATACCACATTATAAG c.480
I E R V F G K C G N V V Y I S I P H Y K p.160
. . . . . . g.14980
TCTACTGGAGATCCAAAGGGATTTGCGTTTGTGGAATTTGAAACAAAAGAACAAGCAGCA c.540
S T G D P K G F A F V E F E T K E Q A A p.180
. | 06 . . . . . g.15118
AAAGCAATTGAG | TTTCTTAACAACCCACCAGAAGAAGCACCAAGAAAACCTGGCATATTT c.600
K A I E | F L N N P P E E A P R K P G I F p.200
. . . . | 07 . . g.15249
CCTAAAACAGTGAAAAATAAGCCCATTCCAGCCTTAAGAGTTGTGG | AAGAGAAGAAAAAG c.660
P K T V K N K P I P A L R V V E | E K K K p.220
. . . . . . g.15309
AAAAAGAAGAAGAAAGGCCGAATGAAAAAGGAAGACAATATCCAAGCCAAAGAAGAAAAC c.720
K K K K K G R M K K E D N I Q A K E E N p.240
. . . . . . g.15369
ATGGACACAAGCAACACCAGCATCAGTAAAATGAAAAGATCCAGACCCACATCTGAGGGC c.780
M D T S N T S I S K M K R S R P T S E G p.260
. . . . . . g.15429
TCTGACATTGAGTCCACTGAACCCCAAAAGCAGTGCTCAAAGAAAAAGAAAAAACGGGAC c.840
S D I E S T E P Q K Q C S K K K K K R D p.280
. . . . . . g.15489
AGAGTTGAAGCATCTAGCTTACCTGAAGTCAGAACAGGGAAGAGGAAGAGAAGCAGCTCT c.900
R V E A S S L P E V R T G K R K R S S S p.300
. . . . . . g.15549
GAAGATGCAGAATCCCTAGCTCCCCGATCAAAAGTAAAGAAAATTATTCAGAAAGACATC c.960
E D A E S L A P R S K V K K I I Q K D I p.320
. . . | 08. . . g.15749
ATTAAGGAAGCATCAGAAGCTTCCAAGGAAAATAGAG | ATATAGAAATCTCTACTGAAGAG c.1020
I K E A S E A S K E N R D | I E I S T E E p.340
. . . . . . g.15809
GAAAAGGATACTGGAGATCTAAAAGATAGCTCTCTCTTGAAAACAAAAAGGAAACATAAG c.1080
E K D T G D L K D S S L L K T K R K H K p.360
. . . . . . g.15869
AAAAAACATAAAGAGAGACATAAAATGGGAGAAGAAGTTATACCATTAAGAGTGCTATCA c.1140
K K H K E R H K M G E E V I P L R V L S p.380
| 09 . . . . . . g.17629
AA | GAGCGAATGGATGGATTTGAAAAAAGAGTATTTAGCGCTACAAAAAGCTAGCATGGCT c.1200
K | S E W M D L K K E Y L A L Q K A S M A p.400
. . . . . . g.17689
TCTTTAAAAAAAACAATATCCCAAATAAAATCAGAGTCAGAAATGGAAACAGACAGTGGA c.1260
S L K K T I S Q I K S E S E M E T D S G p.420
. . . | 10 . . . g.18523
GTACCTCAAAACACTGGAATGAAAAATGAAAAAA | CAGCCAACAGGGAAGAGTGTCGCACC c.1320
V P Q N T G M K N E K T | A N R E E C R T p.440
. . . . . . g.18583
CAGGAGAAAGTTAATGCAACAGGACCACAGTTCGTGAGTGGAGTGATTGTGAAGATCATT c.1380
Q E K V N A T G P Q F V S G V I V K I I p.460
. . . | 11 . . . g.21137
AGCACAGAGCCTCTACCTGGCAGGAAACAAGTCCGG | GATACTTTGGCAGCAATCTCAGAA c.1440
S T E P L P G R K Q V R | D T L A A I S E p.480
. . . . . . g.21197
GTTCTTTATGTTGATTTGCTAGAAGGGGATACAGAATGCCATGCTAGATTTAAAACTCCT c.1500
V L Y V D L L E G D T E C H A R F K T P p.500
. . . . . . g.21257
GAGGATGCTCAAGCAGTAATAAATGCCTATACAGAAATTAACAAGAAACACTGCTGGAAA c.1560
E D A Q A V I N A Y T E I N K K H C W K p.520
. | 12 . . . . . g.22148
CTCGAGATCCTTTCTG | GTGATCACGAACAAAGGTATTGGCAGAAGATTTTGGTTGATAGA c.1620
L E I L S G | D H E Q R Y W Q K I L V D R p.540
. . . . | 13 . g.25295
CAGGCAAAACTTAATCAGCCTCGGGAAAAGAAAAGAGGCACTGAAAAG | TTAATCACCAAA c.1680
Q A K L N Q P R E K K R G T E K | L I T K p.560
. . . . . . g.25355
GCTGAAAAGATTAGACTGGCAAAGACTCAACAAGCGAGTAAACATATAAGATTTTCTGAA c.1740
A E K I R L A K T Q Q A S K H I R F S E p.580
g.25364
TATGATTGA c.1749
Y D X p.582
. . . . . . g.25424
aaaaaaaaacagttcacctcttaatacttcacaagatacttgagctgttcttgggagatt c.*60
. . . . . . g.25484
cacttttattatggtagcactgcataattaatgtgtttttaattaaaagaaatatctttg c.*120
. . . . . . g.25544
ttcctcaacttgtaaataagacttttttctagagacaaatatgatgtataccacaatttt c.*180
. . . . . . g.25604
tcttaaacattttatttgttgaaattatcttagatgtcagtgtcaggtgatttagtaaat c.*240
. g.25623
aaatgtgttttgaacatta c.*259
(downstream sequence)
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