(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the SPINK5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering SPINK5 transcript NM_006846.3.
(upstream sequence)
. g.1013
ccgagttcagtca c.-61
. . . . . . g.1073
tactgcaccagctgagcaatgcatggagtggacctgtaggcgacttgcatcgtcttcaac c.-1
. . . . . | 02 . g.2380
ATGAAGATAGCCACAGTGTCAGTGCTTCTGCCCTTGGCTCTTTGCCTCATACAAG | ATGCT c.60
M K I A T V S V L L P L A L C L I Q D | A p.20
. . | 03 . . . . g.7390
GCCAGTAAGAATGAAGATCAG | GAAATGTGCCATGAATTTCAGGCATTTATGAAAAATGGA c.120
A S K N E D Q | E M C H E F Q A F M K N G p.40
. . . . . . g.7450
AAACTGTTCTGTCCCCAGGATAAGAAATTTTTTCAAAGTCTTGATGGAATAATGTTCATC c.180
K L F C P Q D K K F F Q S L D G I M F I p.60
. . | 04 . . . g.9207
AATAAATGTGCCACGTGCAAAATGATACT | GGAAAAAGAAGCAAAATCACAGAAGAGGGCC c.240
N K C A T C K M I L | E K E A K S Q K R A p.80
. . . . | 05 . . g.23451
AGGCATTTAGCAAGAGCTCCCAAGGCTACTGCCCCAACAGAG | CTGAATTGTGATGATTTT c.300
R H L A R A P K A T A P T E | L N C D D F p.100
. . . . . . g.23511
AAAAAAGGAGAAAGAGATGGGGATTTTATCTGTCCTGATTATTATGAAGCTGTTTGTGGC c.360
K K G E R D G D F I C P D Y Y E A V C G p.120
. . . . . | 06 . g.25580
ACAGATGGGAAAACATATGACAACAGATGTGCACTGTGTGCTGAGAATGC | GAAAACCGGG c.420
T D G K T Y D N R C A L C A E N A | K T G p.140
. . . . . | 07 . g.26528
TCCCAAATTGGTGTAAAAAGTGAAGGGGAATGTAAGAGCAGTAATCCAGAGCAG | GATGTA c.480
S Q I G V K S E G E C K S S N P E Q | D V p.160
. . . . . . g.26588
TGCAGTGCTTTTCGGCCCTTTGTTAGAGATGGAAGACTTGGATGCACAAGGGAAAATGAT c.540
C S A F R P F V R D G R L G C T R E N D p.180
. . . . . . g.26648
CCTGTTCTTGGTCCTGATGGGAAGACGCATGGCAATAAGTGTGCAATGTGTGCTGAGCTG c.600
P V L G P D G K T H G N K C A M C A E L p.200
| 08 . . . . . . g.28251
TT | TTTAAAAGAAGCTGAAAATGCCAAGCGAGAGGGTGAAACTAGAATTCGACGAAATGCT c.660
F | L K E A E N A K R E G E T R I R R N A p.220
| 09 . . . . . . g.31436
GAAAAG | GATTTTTGCAAGGAATATGAAAAACAAGTGAGAAATGGAAGGCTTTTTTGTACA c.720
E K | D F C K E Y E K Q V R N G R L F C T p.240
. . . . . . g.31496
CGGGAGAGTGATCCAGTCCGTGGCCCTGACGGCAGGATGCATGGCAACAAATGTGCCCTG c.780
R E S D P V R G P D G R M H G N K C A L p.260
. | 10 . . . . . g.32892
TGTGCTGAAATTTT | CAAGCAGCGTTTTTCAGAGGAAAACAGTAAAACAGATCAAAATTTG c.840
C A E I F | K Q R F S E E N S K T D Q N L p.280
. . . . | 11 . . g.34913
GGAAAAGCTGAAGAAAAAACTAAAGTTAAAAGAGAAATTGTG | AAACTCTGCAGTCAATAT c.900
G K A E E K T K V K R E I V | K L C S Q Y p.300
. . . . . . g.34973
CAAAATCAGGCAAAGAATGGAATACTTTTCTGTACCAGAGAAAATGACCCTATTCGTGGT c.960
Q N Q A K N G I L F C T R E N D P I R G p.320
. . . . . | 12 . g.36272
CCAGATGGGAAAATGCATGGCAACTTGTGTTCCATGTGTCAAGCCTACTT | CCAAGCAGAA c.1020
P D G K M H G N L C S M C Q A Y F | Q A E p.340
. . . . . . g.36332
AATGAAGAAAAGAAAAAGGCTGAAGCACGAGCTAGAAACAAAAGAGAATCTGGAAAAGCA c.1080
N E E K K K A E A R A R N K R E S G K A p.360
. | 13 . . . . . g.37530
ACCTCATATGCA | GAGCTTTGCAGTGAATATCGAAAGCTTGTGAGGAACGGAAAACTTGCT c.1140
T S Y A | E L C S E Y R K L V R N G K L A p.380
. . . . . . g.37590
TGCACCAGAGAGAACGATCCTATCCAGGGCCCAGATGGGAAAGTGCATGGCAACACCTGC c.1200
C T R E N D P I Q G P D G K V H G N T C p.400
. . | 14 . . . . g.38423
TCCATGTGTGAGGTCTTCTT | CCAAGCAGAAGAAGAAGAAAAGAAAAAGAAGGAAGGTAAA c.1260
S M C E V F F | Q A E E E E K K K K E G K p.420
. . . . | 15 . . g.38827
TCAAGAAACAAAAGACAATCTAAGAGTACAGCTTCCTTTGAG | GAGTTGTGTAGTGAATAC c.1320
S R N K R Q S K S T A S F E | E L C S E Y p.440
. . . . . . g.38887
CGCAAATCCAGGAAAAACGGACGGCTTTTTTGCACCAGAGAGAATGACCCCATCCAGGGC c.1380
R K S R K N G R L F C T R E N D P I Q G p.460
. . . . . | 16 . g.41990
CCAGATGGAAAAATGCATGGCAACACCTGCTCCATGTGTGAGGCCTTCTT | TCAACAAGAA c.1440
P D G K M H G N T C S M C E A F F | Q Q E p.480
. . . | 17 . . g.44086
GAAAGAGCAAGAGCAAAGGCTAAAAGAGAAGCTGCAAAG | GAAATCTGCAGTGAATTTCGG c.1500
E R A R A K A K R E A A K | E I C S E F R p.500
. . . . . . g.44146
GACCAAGTGAGGAATGGAACACTTATATGCACCAGGGAGCATAATCCTGTCCGTGGCCCA c.1560
D Q V R N G T L I C T R E H N P V R G P p.520
. . . . | 18. . g.45794
GATGGCAAAATGCATGGAAACAAGTGTGCCATGTGTGCCAGTGTGTT | CAAACTTGAAGAA c.1620
D G K M H G N K C A M C A S V F | K L E E p.540
. . . . . . g.45854
GAAGAGAAGAAAAATGATAAAGAAGAAAAAGGGAAAGTCGAGGCTGAAAAAGTTAAGAGA c.1680
E E K K N D K E E K G K V E A E K V K R p.560
. | 19 . . . . . g.48844
GAAGCAGTTCAG | GAGCTGTGCAGTGAATATCGTCATTATGTGAGGAATGGACGACTCCCC c.1740
E A V Q | E L C S E Y R H Y V R N G R L P p.580
. . . . . . g.48904
TGTACCAGAGAGAATGATCCTATTGAGGGTCTAGATGGGAAAATCCACGGCAACACCTGC c.1800
C T R E N D P I E G L D G K I H G N T C p.600
. . | 20 . . . . g.49936
TCCATGTGTGAAGCCTTCTT | CCAGCAAGAAGCAAAAGAAAAAGAAAGAGCTGAACCCAGA c.1860
S M C E A F F | Q Q E A K E K E R A E P R p.620
. . | 21. . . . g.51423
GCAAAAGTCAAAAGAGAAGCTGAAAAG | GAGACATGCGATGAATTTCGGAGACTTTTGCAA c.1920
A K V K R E A E K | E T C D E F R R L L Q p.640
. . . . . . g.51483
AATGGAAAACTTTTCTGCACAAGAGAAAATGATCCTGTGCGTGGCCCAGATGGCAAGACC c.1980
N G K L F C T R E N D P V R G P D G K T p.660
. . . | 22 . . . g.53423
CATGGCAACAAGTGTGCCATGTGTAAGGCAGTCTT | CCAGAAAGAAAATGAGGAAAGAAAG c.2040
H G N K C A M C K A V F | Q K E N E E R K p.680
. . . . . . g.53483
AGGAAAGAAGAGGAAGATCAGAGAAATGCTGCAGGACATGGTTCCAGTGGTGGTGGAGGA c.2100
R K E E E D Q R N A A G H G S S G G G G p.700
. | 23 . . . . . g.55513
GGAAACACTCAG | GACGAATGTGCTGAGTATCGGGAACAAATGAAAAATGGAAGACTCAGC c.2160
G N T Q | D E C A E Y R E Q M K N G R L S p.720
. . . . . . g.55573
TGTACTCGGGAGAGTGATCCTGTACGTGATGCTGATGGCAAATCGTACAACAATCAGTGT c.2220
C T R E S D P V R D A D G K S Y N N Q C p.740
. . | 24 . . . . g.56054
ACCATGTGTAAAGCAAAATT | GGAAAGAGAAGCAGAGAGAAAAAATGAGTATTCTCGCTCC c.2280
T M C K A K L | E R E A E R K N E Y S R S p.760
. . . | 25 . . . g.57064
AGATCAAATGGGACTGGATCAGAATCAGGGAAG | GATACATGTGATGAGTTTAGAAGCCAA c.2340
R S N G T G S E S G K | D T C D E F R S Q p.780
. . . . . . g.57124
ATGAAAAATGGAAAACTCATCTGCACTCGAGAAAGTGACCCTGTCCGGGGTCCAGATGGC c.2400
M K N G K L I C T R E S D P V R G P D G p.800
. . . . | 26 . . g.57342
AAGACACATGGCAATAAGTGTACTATGTGTAAGGAAAAACT | GGAAAGGGAAGCAGCTGAA c.2460
K T H G N K C T M C K E K L | E R E A A E p.820
. . . . . . g.57402
AAAAAAAAGAAAGAGGATGAAGACAGGAGCAATACAGGAGAAAGGAGCAATACAGGAGAA c.2520
K K K K E D E D R S N T G E R S N T G E p.840
. | 27 . . . . g.60903
AGGAGCAATGACAAAGAG | GATCTGTGTCGTGAATTTCGAAGCATGCAGAGAAATGGAAAG c.2580
R S N D K E | D L C R E F R S M Q R N G K p.860
. . . . . . g.60963
CTTATCTGCACCAGAGAAAATAACCCTGTTCGAGGCCCATATGGCAAGATGCACATCAAT c.2640
L I C T R E N N P V R G P Y G K M H I N p.880
. . | 28 . . . . g.61827
AAATGTGCTATGTGTCAGAGCATCTT | TGATCGAGAAGCTAATGAAAGAAAAAAGAAAGAT c.2700
K C A M C Q S I F | D R E A N E R K K K D p.900
. . . | 29 . . g.62772
GAAGAGAAATCAAGTAGCAAGCCCTCAAATAATGCAAAG | GATGAGTGCAGTGAATTTCGA c.2760
E E K S S S K P S N N A K | D E C S E F R p.920
. . . . . . g.62832
AACTATATAAGGAACAATGAACTCATCTGCCCTAGAGAGAATGACCCAGTGCACGGTGCT c.2820
N Y I R N N E L I C P R E N D P V H G A p.940
. . . . | 30. . g.64024
GATGGAAAGTTCTATACAAACAAGTGCTACATGTGCAGAGCTGTCTT | TCTAACAGAAGCT c.2880
D G K F Y T N K C Y M C R A V F | L T E A p.960
. . . . . . g.64084
TTGGAAAGGGCAAAGCTTCAAGAAAAGCCATCCCATGTTAGAGCTTCTCAAGAGGAAGAC c.2940
L E R A K L Q E K P S H V R A S Q E E D p.980
. . | 31 . . . . g.68323
AGCCCAGACTCTTTCAGTTCTCTG | GATTCTGAGATGTGCAAAGACTACCGAGTATTGCCC c.3000
S P D S F S S L | D S E M C K D Y R V L P p.1000
. . . . . . g.68383
AGGATAGGTTATCTTTGTCCAAAGGATTTAAAGCCTGTCTGTGGTGACGATGGCCAAACC c.3060
R I G Y L C P K D L K P V C G D D G Q T p.1020
. . . | 32 . . . g.70850
TACAACAATCCTTGCATGCTCTGTCATGAAAACCT | GATACGCCAAACAAATACACACATC c.3120
Y N N P C M L C H E N L | I R Q T N T H I p.1040
. . . . . . g.70910
CGCAGTACAGGGAAGTGTGAGGAGAGCAGCACCCCAGGAACCACCGCAGCCAGCATGCCC c.3180
R S T G K C E E S S T P G T T A A S M P p.1060
| 33 . g.74065
CCGTCT | GACGAATGA c.3195
P S | D E X p.1064
. . . . . . g.74125
caggaagattgttgaaagccatgagggaaaaaataaaccccagttctgaatcacctacct c.*60
. . . . . . g.74185
tcaccatctgtatatacaaagaattcttcggagcttgtcttatttgctatagaaaacaat c.*120
. . . . . . g.74245
acagagcttttgggaatggactcactgattttcagtcttttccatctctttcctcctaga c.*180
. . . . . . g.74305
ctctgtgatctgagggtataaagacatctccaccaagtctgagccctcaaaatgtcctga c.*240
. . . . . . g.74365
ttacaatgctgtctgtccaactgcctgttcaataaaagtaaactcagcagaacacccttt c.*300
. . . . . . g.74425
ctgggatttctttgtcactatctggataatagatatttgcttttaaagaaactgaataaa c.*360
. g.74436
ctctacccttt c.*371
(downstream sequence)
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