(used for variant description)
(last modified July 9, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_014208.3 in the DSPP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011595.1, covering DSPP transcript NM_014208.3.
(upstream sequence)
. . . . . . g.5060
atgcaaaagtccaggacagtgggccactttcagtcttcaaagagaaagataagaaattct c.-61
. . . . | 02 . . g.7380
ggattttcaaaatccttttgaagccttttaag | ccattgattattattattcctaaagaaa c.-1
. . . . . | 03 . g.8585
ATGAAGATAATTACATATTTTTGCATTTGGGCAGTAGCATGGGCCATTCCA | GTTCCTCAA c.60
M K I I T Y F C I W A V A W A I P | V P Q p.20
. . . . . . g.8645
AGCAAACCACTGGAGAGACATGTCGAAAAATCCATGAATTTGCATCTCCTAGCAAGATCA c.120
S K P L E R H V E K S M N L H L L A R S p.40
. | 04 . . . . . g.8838
AATGTGTCAGTACAG | GATGAGTTAAATGCCAGTGGAACCATCAAAGAAAGTGGTGTCCTG c.180
N V S V Q | D E L N A S G T I K E S G V L p.60
. . . . . . g.8898
GTGCATGAAGGTGATAGAGGAAGGCAAGAGAATACCCAAGATGGTCACAAGGGAGAAGGG c.240
V H E G D R G R Q E N T Q D G H K G E G p.80
. . . . . . g.8958
AATGGCTCTAAGTGGGCAGAAGTAGGAGGGAAGAGTTTTTCTACATATTCCACATTAGCA c.300
N G S K W A E V G G K S F S T Y S T L A p.100
. . . . . . g.9018
AACGAAGAGGGGAATATTGAGGGCTGGAATGGGGACACAGGAAAAGCAGAAACATATGGT c.360
N E E G N I E G W N G D T G K A E T Y G p.120
. . . . . . g.9078
CATGATGGAATACATGGGAAAGAAGAAAACATCACAGCAAATGGCATCCAGGGACAAGTA c.420
H D G I H G K E E N I T A N G I Q G Q V p.140
. . . . . . g.9138
AGCATCATTGACAATGCTGGAGCCACAAACAGAAGCAACACTAATGGAAATACTGATAAG c.480
S I I D N A G A T N R S N T N G N T D K p.160
. . . . . . g.9198
AATACCCAAAATGGGGATGTTGGCGATGCAGGTCACAATGAGGATGTCGCTGTTGTCCAA c.540
N T Q N G D V G D A G H N E D V A V V Q p.180
. . . . . . g.9258
GAAGATGGACCTCAAGTAGCTGGAAGCAATAACAGTACAGACAATGAGGATGAAATAATT c.600
E D G P Q V A G S N N S T D N E D E I I p.200
. . . . . . g.9318
GAGAATTCCTGTAGAAACGAGGGTAATACAAGTGAAATAACACCTCAGATCAACAGCAAG c.660
E N S C R N E G N T S E I T P Q I N S K p.220
. . . . . . g.9378
AGAAATGGGACTAAGGAAGCTGAGGTAACACCAGGCACTGGAGAAGATGCTGGCCTGGAT c.720
R N G T K E A E V T P G T G E D A G L D p.240
. . . . . . g.9438
AATTCCGATGGGAGTCCTAGTGGGAATGGAGCAGATGAGGATGAAGACGAGGGTTCTGGT c.780
N S D G S P S G N G A D E D E D E G S G p.260
. . . . . . g.9498
GATGATGAAGATGAAGAAGCAGGGAATGGAAAAGACAGTAGTAATAACAGCAAGGGCCAG c.840
D D E D E E A G N G K D S S N N S K G Q p.280
. . . . . . g.9558
GAGGGCCAGGACCATGGGAAAGAAGATGATCATGATAGTAGCATAGGTCAAAATTCAGAT c.900
E G Q D H G K E D D H D S S I G Q N S D p.300
. . . . . . g.9618
AGTAAAGAATATTATGACCCTGAAGGCAAAGAAGATCCCCATAATGAAGTTGATGGAGAC c.960
S K E Y Y D P E G K E D P H N E V D G D p.320
. . . . . . g.9678
AAGACCTCCAAGAGTGAGGAGAATTCTGCTGGTATTCCAGAAGACAATGGCAGCCAAAGA c.1020
K T S K S E E N S A G I P E D N G S Q R p.340
. . . . . . g.9738
ATAGAGGACACCCAGAAGCTCAACCATAGAGAAAGCAAACGCGTAGAAAATAGAATCACC c.1080
I E D T Q K L N H R E S K R V E N R I T p.360
. . . . | 05 . . g.10274
AAAGAATCAGAGACACATGCTGTTGGGAAGAGCCAAGATAAG | GGAATAGAAATCAAGGGT c.1140
K E S E T H A V G K S Q D K | G I E I K G p.380
. . . . . . g.10334
CCCAGCAGTGGCAACAGAAATATTACCAAAGAAGTTGGGAAAGGCAACGAAGGTAAAGAG c.1200
P S S G N R N I T K E V G K G N E G K E p.400
. . . . . . g.10394
GATAAAGGACAACATGGAATGATCTTGGGCAAAGGCAATGTCAAGACACAAGGAGAGGTT c.1260
D K G Q H G M I L G K G N V K T Q G E V p.420
. . . . . . g.10454
GTCAACATAGAAGGACCTGGCCAAAAATCAGAACCAGGAAATAAAGTTGGACACAGCAAT c.1320
V N I E G P G Q K S E P G N K V G H S N p.440
. . . . . . g.10514
ACAGGTAGTGACAGCAATAGTGATGGATATGACAGTTATGATTTTGATGATAAGTCCATG c.1380
T G S D S N S D G Y D S Y D F D D K S M p.460
. . . . . . g.10574
CAAGGAGATGATCCCAATAGCAGTGATGAATCTAATGGCAATGATGATGCTAATTCAGAA c.1440
Q G D D P N S S D E S N G N D D A N S E p.480
. . . . . . g.10634
AGTGACAATAACAGCAGTAGCCGAGGAGATGCTTCTTATAACTCTGATGAATCAAAAGAT c.1500
S D N N S S S R G D A S Y N S D E S K D p.500
. . . . . . g.10694
AATGGCAATGGCAGTGACTCAAAAGGAGCAGAAGATGATGACAGTGATAGCACATCAGAC c.1560
N G N G S D S K G A E D D D S D S T S D p.520
. . . . . . g.10754
ACTAATAATAGTGACAGTAATGGCAATGGTAACAATGGGAATGATGACAATGACAAATCA c.1620
T N N S D S N G N G N N G N D D N D K S p.540
. . . . . . g.10814
GACAGTGGCAAAGGTAAATCAGATAGCAGTGACAGTGATAGTAGTGATAGCAGCAATAGC c.1680
D S G K G K S D S S D S D S S D S S N S p.560
. . . . . . g.10874
AGTGATAGTAGTGACAGCAGTGACAGTGACAGCAGTGATAGCAACAGTAGCAGTGATAGT c.1740
S D S S D S S D S D S S D S N S S S D S p.580
. . . . . . g.10934
GACAGCAGTGACAGTGACAGCAGTGATAGCAGTGACAGTGATAGTAGTGATAGCAGCAAT c.1800
D S S D S D S S D S S D S D S S D S S N p.600
. . . . . . g.10994
AGCAGTGACAGTAGTGACAGCAGTGATAGCAGTGACAGTAGTGATAGTAGTGACAGCAGT c.1860
S S D S S D S S D S S D S S D S S D S S p.620
. . . . . . g.11054
GACAGCAAGTCAGACAGCAGCAAATCAGAGAGCGACAGCAGTGATAGTGACAGTAAGTCA c.1920
D S K S D S S K S E S D S S D S D S K S p.640
. . . . . . g.11114
GACAGCAGTGACAGCAACAGCAGTGACAGTAGTGACAACAGTGATAGCAGCGACAGCAGC c.1980
D S S D S N S S D S S D N S D S S D S S p.660
. . . . . . g.11174
AATAGCAGTAACAGCAGTGATAGTAGTGACAGCAGTGATAGCAGTGACAGCAGCAGTAGC c.2040
N S S N S S D S S D S S D S S D S S S S p.680
. . . . . . g.11234
AGTGACAGCAGCAACAGCAGTGATAGTAGTGACAGTAGTGACAGCAGCAATAGCAGTGAG c.2100
S D S S N S S D S S D S S D S S N S S E p.700
. . . . . . g.11294
AGCAGTGATAGTAGTGACAGCAGTGATAGTGACAGCAGTGATAGTAGTGACAGCAGTAAT c.2160
S S D S S D S S D S D S S D S S D S S N p.720
. . . . . . g.11354
AGTAACAGCAGCGATAGTGACAGCAGCAACAGCAGCGATAGCAGTGACAGCAGCAACAGC c.2220
S N S S D S D S S N S S D S S D S S N S p.740
. . . . . . g.11414
AGTGACAGCAGTGATAGCAGTGACAGCAGCAACAGCAGTGACAGTAGCGATAGCAGTGAC c.2280
S D S S D S S D S S N S S D S S D S S D p.760
. . . . . . g.11474
AGCAGCAACAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGATAGTAGTGACAGCAGC c.2340
S S N S S D S S D S S D S S D S S D S S p.780
. . . . . . g.11534
AACAGCAGTGATAGCAACGACAGCAGCAATAGCAGTGACAGCAGTGATAGCAGCAACAGC c.2400
N S S D S N D S S N S S D S S D S S N S p.800
. . . . . . g.11594
AGTGATAGCAGCAACAGCAGTGATAGCAGTGATAGCAGTGACAGCAGTGATAGCGACAGC c.2460
S D S S N S S D S S D S S D S S D S D S p.820
. . . . . . g.11654
AGCAATAGCAGTGACAGCAGTAATAGTAGTGACAGCAGCGATAGCAGCAACAGCAGTGAT c.2520
S N S S D S S N S S D S S D S S N S S D p.840
. . . . . . g.11714
AGCAGCGACAGCAGCGATAGCAGTGACGGCAGTGATAGCGACAGCAGCAATAGAAGTGAC c.2580
S S D S S D S S D G S D S D S S N R S D p.860
. . . . . . g.11774
AGTAGTAATAGTAGTGACAGCAGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGT c.2640
S S N S S D S S D S S D S S N S S D S S p.880
. . . . . . g.11834
GATAGCAGTGACAGCAACGAAAGCAGCAATAGCAGTGACAGCAGTGATAGCAGCAACAGC c.2700
D S S D S N E S S N S S D S S D S S N S p.900
. . . . . . g.11894
AGTGATAGTGACAGCAGTGATAGCAGCAACAGCAGTGACAGCAGTGATAGCAGCAACAGC c.2760
S D S D S S D S S N S S D S S D S S N S p.920
. . . . . . g.11954
AGTGATAGCAGTGAAAGCAGTAATAGTAGTGACAACAGCAATAGCAGTGACAGCAGCAAC c.2820
S D S S E S S N S S D N S N S S D S S N p.940
. . . . . . g.12014
AGCAGTGACAGCAGTGATAGCAGTGACAGCAGTAATAGTAGTGACAGCAGCAATAGCAGT c.2880
S S D S S D S S D S S N S S D S S N S S p.960
. . . . . . g.12074
GACAGCAGCAACAGCAGTGACAGCAGTGATAGCAATAGCAGCGACAGCAGTGACAGCAGC c.2940
D S S N S S D S S D S N S S D S S D S S p.980
. . . . . . g.12134
AACAGCAGCGATAGCAGTGACAGCAGTGATAGCAGTGACAGCAGTGACAGCAGTGATAGC c.3000
N S S D S S D S S D S S D S S D S S D S p.1000
. . . . . . g.12194
AGCAACAGCAGTGATAGCAGTGACAGCAGTGACAGCAGTGATAGCAGTAATAGTAGTGAC c.3060
S N S S D S S D S S D S S D S S N S S D p.1020
. . . . . . g.12254
AGCAGCAATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGCGATAGCAGTGACAGCAGC c.3120
S S N S S D S S N S S D S S D S S D S S p.1040
. . . . . . g.12314
GATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGC c.3180
D S S D S S D S S D S S D S S N S S D S p.1060
. . . . . . g.12374
AGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGAT c.3240
S D S S D S S D S S D S S D S S D S S D p.1080
. . . . . . g.12434
AGCAGTGAAAGCAGTGATAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGC c.3300
S S E S S D S S D S S N S S D S S D S S p.1100
. . . . . . g.12494
GACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCGATAGCAGTGACAGCAGTGACAGC c.3360
D S S D S S D S S D S S D S S D S S D S p.1120
. . . . . . g.12554
AGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGCAAC c.3420
S N S S D S S D S S D S S D S S D S S N p.1140
. . . . . . g.12614
AGCAGTGACAGCAGTGACAGCAGTGAAAGCAGCGACAGCAGTGACAGCAGCGACAGCAGT c.3480
S S D S S D S S E S S D S S D S S D S S p.1160
. . . . . . g.12674
GACAGCAGCGATAGCAGCGACAGCAGCGACAGCAGCGATAGCAGTGACAGCAGCAATAGC c.3540
D S S D S S D S S D S S D S S D S S N S p.1180
. . . . . . g.12734
AGTGATAGCAGCGACAGCAGTGATAGCAGTGACAGCAGCGACAGCAGCGATAGCAGCGAC c.3600
S D S S D S S D S S D S S D S S D S S D p.1200
. . . . . . g.12794
AGCAGCGATAGTAGTGATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGACAGCAGC c.3660
S S D S S D S S D S S D S S D S S D S S p.1220
. . . . . . g.12854
GACAGCAGTGACAGCAGCGACAGCAGTGACAGCAATGAAAGCAGCGACAGCAGTGACAGC c.3720
D S S D S S D S S D S N E S S D S S D S p.1240
. . . . . . g.12914
AGCGATAGCAGTGACAGCAGCAACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGAC c.3780
S D S S D S S N S S D S S D S S D S S D p.1260
. . . . . . g.12974
AGCACATCTGACAGCAATGATGAGAGTGACAGCCAGAGCAAGTCTGGTAACGGTAACAAC c.3840
S T S D S N D E S D S Q S K S G N G N N p.1280
. . . . . . g.13034
AATGGAAGTGACAGTGACAGTGACAGTGAAGGCAGTGACAGTAACCACTCAACCAGTGAT c.3900
N G S D S D S D S E G S D S N H S T S D p.1300
g.13040
GATTAG c.3906
D X p.1301
. . . . . . g.13100
aacaaaagaaaaacccgtaagattccttttgtgaaaagtttggtaatgggataggaaaaa c.*60
. . . . . . g.13160
aagatttccaagaaagtaaagaaaggggagaaataaacataagacgtatgtaaacaaaaa c.*120
. . . . . . g.13220
caactgggggaatcaaatcaaacagttggattcagaaccaagacctaactcctgcagaga c.*180
. . . . . . g.13280
cagactctgaatgcatgacctttggtacatgcctgttaatattcatgttctgaaaatatt c.*240
. . . . . . g.13340
ttgttaaaagtgtaaatctaaacataaaagaacaattaaaatattctttaatacttcaca c.*300
g.13345
cagaa c.*305
(downstream sequence)
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