(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the SRP72 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering SRP72 transcript NM_006947.3.
(upstream sequence)
. . . . g.1432
gggcagaggtctccccgccccgcccctcgtctcctccaag c.-1
. . . . . . g.1492
ATGGCGAGCGGCGGCAGCGGGGGGGTGTCAGTACCTGCGCTGTGGAGTGAAGTGAACCGG c.60
M A S G G S G G V S V P A L W S E V N R p.20
. . . . | 02 . g.3460
TATGGCCAGAACGGCGACTTCACGCGCGCTCTCAAGACCGTCAATAAGA | TACTACAGATC c.120
Y G Q N G D F T R A L K T V N K I | L Q I p.40
. . . . . . g.3520
AACAAAGATGACGTAACTGCCCTGCATTGTAAAGTGGTATGCCTTATCCAGAATGGAAGT c.180
N K D D V T A L H C K V V C L I Q N G S p.60
. . . . . | 03 . g.5526
TTCAAGGAAGCTTTGAATGTCATCAATACTCACACCAAAGTGTTAGCCAA | TAACTCTCTC c.240
F K E A L N V I N T H T K V L A N | N S L p.80
. . . . . . g.5586
TCCTTTGAAAAGGCATATTGCGAGTACAGGCTGAACAGAATTGAGAATGCCTTGAAGACA c.300
S F E K A Y C E Y R L N R I E N A L K T p.100
. . . . . | 04 . g.7856
ATAGAAAGTGCCAACCAGCAGACAGACAAACTGAAGGAGCTTTATGGACAAGTG | TTATAC c.360
I E S A N Q Q T D K L K E L Y G Q V | L Y p.120
. . . . . . g.7916
CGTTTGGAACGCTATGATGAATGCTTAGCAGTGTATAGAGATCTCGTCCGAAACTCCCAA c.420
R L E R Y D E C L A V Y R D L V R N S Q p.140
. . . . . . g.7976
GATGATTATGATGAGGAGAGGAAAACAAACCTTTCAGCAGTTGTTGCAGCTCAAAGCAAT c.480
D D Y D E E R K T N L S A V V A A Q S N p.160
. | 05 . . . . g.8118
TGGGAAAAAGTGGTTCCA | GAGAACCTGGGCCTCCAAGAAGGCACACATGAGCTGTGCTAC c.540
W E K V V P | E N L G L Q E G T H E L C Y p.180
. . . . . . g.8178
AACACTGCATGTGCACTGATAGGCCAAGGCCAGCTGAACCAGGCCATGAAAATCCTACAA c.600
N T A C A L I G Q G Q L N Q A M K I L Q p.200
. | 06 . . . | 07 . . g.12193
AAAGCTGAAG | ATCTTTGCCGCCGTTCATTATCAGAAGACACT | GATGGGACTGAGGAAGAC c.660
K A E D | L C R R S L S E D T | D G T E E D p.220
. . . . . . g.12253
CCACAGGCAGAACTGGCCATCATTCATGGTCAGATGGCTTATATTCTGCAGCTTCAGGGT c.720
P Q A E L A I I H G Q M A Y I L Q L Q G p.240
. . . . | 08. . g.12401
CGAACAGAGGAGGCTTTGCAACTTTACAATCAAATAATAAAACTAAA | ACCAACAGATGTG c.780
R T E E A L Q L Y N Q I I K L K | P T D V p.260
. . . . | 09 . . g.16950
GGATTACTAGCTGTAATTGCAAATAACATCATTACCATTAACAAG | GACCAAAATGTCTTT c.840
G L L A V I A N N I I T I N K | D Q N V F p.280
. . . . . . g.17010
GACTCCAAGAAGAAAGTGAAATTAACCAATGCGGAAGGAGTAGAGTTTAAGCTTTCCAAG c.900
D S K K K V K L T N A E G V E F K L S K p.300
. . . . . | 10. g.18535
AAACAACTACAAGCTATAGAATTTAACAAAGCTTTACTTGCTATGTACACAAACCAG | GCT c.960
K Q L Q A I E F N K A L L A M Y T N Q | A p.320
. . . . . . g.18595
GAACAATGCCGCAAAATATCTGCCAGTTTACAGTCCCAAAGTCCCGAGCATCTCTTACCT c.1020
E Q C R K I S A S L Q S Q S P E H L L P p.340
. . . . . . g.18655
GTGTTAATCCAAGCTGCCCAGCTCTGCCGTGAAAAGCAGCACACAAAAGCAATAGAGCTG c.1080
V L I Q A A Q L C R E K Q H T K A I E L p.360
| 11 . . . . . . g.20175
CTTCAG | GAATTTTCAGATCAGCATCCAGAAAATGCAGCTGAAATTAAGCTGACCATGGCA c.1140
L Q | E F S D Q H P E N A A E I K L T M A p.380
. | 12 . . . . g.21786
CAGTTGAAAATTTCTCAAG | GTAATATTTCTAAAGCATGTCTAATATTGAGAAGCATAGAG c.1200
Q L K I S Q G | N I S K A C L I L R S I E p.400
. . | 13 . . . . g.23220
GAGTTAAAGCATAAACCAGGCATG | GTATCTGCATTAGTTACCATGTATAGCCATGAAGAA c.1260
E L K H K P G M | V S A L V T M Y S H E E p.420
. . . . . . g.23280
GATATTGATAGTGCCATTGAGGTCTTCACACAAGCTATCCAGTGGTATCAAAACCATCAG c.1320
D I D S A I E V F T Q A I Q W Y Q N H Q p.440
| 14 . . . . . . g.24189
| CCAAAATCTCCTGCTCATTTGTCCTTGATAAGAGAAGCTGCAAACTTCAAACTCAAATAT c.1380
| P K S P A H L S L I R E A A N F K L K Y p.460
. . . . | 15 . . g.24380
GGGCGGAAGAAGGAGGCAATTAGTGACCTACAACAGCTGTGGAA | ACAAAATCCAAAAGAT c.1440
G R K K E A I S D L Q Q L W K | Q N P K D p.480
. . . . . . g.24440
ATTCACACCCTGGCACAGCTTATTTCTGCTTACTCACTTGTAGATCCAGAGAAAGCCAAA c.1500
I H T L A Q L I S A Y S L V D P E K A K p.500
| 16 . . . . . . g.25285
GC | TCTTAGTAAACACTTGCCATCGTCAGATAGTATGTCTCTAAAAGTAGATGTTGAGGCT c.1560
A | L S K H L P S S D S M S L K V D V E A p.520
. . . . . . g.25345
CTTGAAAATTCTGCTGGTGCTACATACATTCGGAAGAAGGGTGGAAAAGTTACTGGAGAT c.1620
L E N S A G A T Y I R K K G G K V T G D p.540
. . | 17 . . . | 18 g.34334
AGTCAACCAAAGGAACAAGG | ACAGGGAGATTTGAAAAAGAAGAAAAAGAAAAAGAAGG | GA c.1680
S Q P K E Q G | Q G D L K K K K K K K K G | p.560
. . . . . . g.34394
AAATTGCCTAAGAATTATGACCCAAAAGTTACCCCAGATCCAGAAAGATGGCTGCCAATG c.1740
K L P K N Y D P K V T P D P E R W L P M p.580
. . . . . . g.34454
CGAGAACGTTCTTACTACCGGGGAAGAAAGAAGGGTAAAAAGAAGGATCAGATTGGAAAA c.1800
R E R S Y Y R G R K K G K K K D Q I G K p.600
. . . | 19 . . g.35502
GGGACCCAGGGAGCAACTGCAGGAGCTTCATCTGAACT | GGATGCCAGTAAAACTGTGAGC c.1860
G T Q G A T A G A S S E L | D A S K T V S p.620
. . . . . . g.35562
AGCCCACCCACCTCCCCAAGACCTGGCAGTGCTGCAACAGTATCTGCCTCTACAAGTAAC c.1920
S P P T S P R P G S A A T V S A S T S N p.640
. . . . . . g.35622
ATCATACCCCCAAGACACCAGAAACCTGCAGGGGCTCCAGCAACAAAAAAGAAACAGCAA c.1980
I I P P R H Q K P A G A P A T K K K Q Q p.660
. . . g.35658
CAGAAAAAGAAGAAAGGTGGAAAAGGTGGCTGGTGA c.2016
Q K K K K G G K G G W X p.671
. . . . . . g.35718
tgagaatattcttgttgcaggctgtttttaaactagtgtcagtgacactaggaatataat c.*60
. . . . . . g.35778
aaaggtaacacagcaagaagcacagaactactccctcttcatctccatattttcataatt c.*120
. . . . . . g.35838
tcttgtgtttcaaatagggaaacatcttcctcaaagtctgcctagtgagatatggcctac c.*180
. . . . . . g.35898
tggttgcctcatagctttgtacagattatgaggactgaaaataattgggcatttacccat c.*240
. . . . . . g.35958
cttggtatctgttgtatcctttatctgtgtgtgctgatttgatcttttttcagtttcaca c.*300
. . . . . . g.36018
taccttatctaaggtttcccaggatttaaacagaaactacttctatgatttcagctggag c.*360
. . . . . . g.36078
tctgaagatacttgtttctgttcaagtcccactttaaattatgtcttaggagactgaaag c.*420
. . . . . . g.36138
tggaatcttctgagcattcctaaatatctgcttagaaatatcatgtgataaagagggacc c.*480
. . . . . . g.36198
ttcttaatacactgatgttcttcactaaatggatggccacaagaaaaataaagtaaatgt c.*540
. . . . . . g.36258
cttaaataatttaaccataaattttctgtcatgtgatactggaatatgggatacttttca c.*600
. . . . . . g.36318
tgtttatatatatatatatatgtatatatatatacatatatatatatatataaacatgaa c.*660
. . . . . . g.36378
atatatatatatggctcctttgtgccccatgtcattttcagattatggtagcatgctgat c.*720
. . . . . . g.36438
acagcaccatgaaagaactcaaggaaaatatatcaatgtaagaagttcactcttagaccc c.*780
. . . . . . g.36498
agtgttctgaggtcacatgggtttggactgtctcaatcagaaagattaatgactgttatc c.*840
. . . . . . g.36558
aagaacatgaacattggcttcctccatagagaagaaatcagtatctgagttgcataccag c.*900
. . . . . . g.36618
gcagtattaaaatctaacaggtctgtttggcccattgatagatactcaaatggtgtctcc c.*960
. . . . . . g.36678
ttctggttatggattttgaccattgattacctttctcaatgtaatgaagtattttacagt c.*1020
. . . . . . g.36738
caatttgtggtgtaaatgttgctcttgtctttccttgcttacaaactactttcacattga c.*1080
. . . . . . g.36798
acagctgtgagacagacatattgagatgcctgcccttgttagtattcattttatgctgcc c.*1140
. . . . . . g.36858
caagatatcatttaatttagacttaacaagtatttccttgtgattatattactctgtcct c.*1200
. . . . . . g.36918
tgttaataaagtgctgctgtgtttgactctgaacatactaccaaaacttcttcaaagagt c.*1260
. . . . . . g.36978
tttttatgaaagactttcctcctttacaagaaagaaatggggtgctgcctttctgtttag c.*1320
. . . . . . g.37038
taaaagcagaatttgcagtggcatctaaagagatcttttttaaataaaaattatgtattg c.*1380
. . . . . . g.37098
tggcataatcctttttttgagctctacagagaacagtcttttggtaatagtggcaggtat c.*1440
. . . . . . g.37158
ttattccttctgaatatataccccattataggaataactgttacttatttaggattccat c.*1500
. . . . . . g.37218
cattgaaaattttgacccaaggcacagcagtgaaatttatagttctcaatttagttgtca c.*1560
. . . . . . g.37278
ttattgacaggcattggtattattagtcattgctaagcaactaaaacttcatcagttcaa c.*1620
. . . . . . g.37338
ataagttttaattgtcaaatgaagtataaacacatgaactttctagaaatatttcctctt c.*1680
. . . . . . g.37398
ttggataggtctttaaccagttcatatatatactttgtcaaatatatggatgtgtatgtg c.*1740
. . . . . . g.37458
tacatttataagaaccagtatggatacatccattcactgtggtacattttaaaataaaat c.*1800
. . g.37478
attttagcagtgaatatgga c.*1820
(downstream sequence)
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