(used for variant description)
(last modified February 16, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_004598.3 in the SPOCK1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering SPOCK1 transcript NM_004598.3.
(upstream sequence)
. . . g.5031
agcacatcgctgcgggctcacaaagcggcca c.-121
. . . . . . g.5091
gacgctcggcggcggcgtgtggcaggagcgcaggggcgcgagccggcgatcagccttccc c.-61
. . . . . . g.5151
ggcgaccgtgccgcgggagctcgagcaactcggactaggggacccgggccggcccccaag c.-1
| 02 . . . . . . g.5831
| ATGCCGGCGATCGCGGTGTTGGCGGCGGCCGCCGCGGCGTGGTGCTTCCTCCAAGTCGAG c.60
| M P A I A V L A A A A A A W C F L Q V E p.20
. . . . . . g.5891
AGCCGGCACCTGGACGCGCTCGCCGGAGGCGCGGGCCCCAACCACGGCAATTTCCTAGAC c.120
S R H L D A L A G G A G P N H G N F L D p.40
. . . . . . g.5951
AATGACCAGTGGCTGAGCACCGTCTCCCAGTACGACCGGGACAAGTACTGGAACCGCTTT c.180
N D Q W L S T V S Q Y D R D K Y W N R F p.60
| 03 . . . . . | 04 . g.363643
CGAGAC | GATGATTATTTCAGAAACTGGAATCCCAACAAGCCCTTTGACCAAG | CCCTGGAC c.240
R D | D D Y F R N W N P N K P F D Q A | L D p.80
. . . . . . g.363703
CCATCCAAGGACCCCTGCCTGAAGGTAAAATGCAGCCCTCACAAAGTGTGTGTGACCCAG c.300
P S K D P C L K V K C S P H K V C V T Q p.100
. . . . | 05. . g.391781
GACTACCAGACCGCCCTGTGTGTCAGCCGCAAGCACCTGCTCCCCAG | GCAAAAGAAGGGG c.360
D Y Q T A L C V S R K H L L P R | Q K K G p.120
. . . . . . g.391841
AACGTGGCCCAGAAACACTGGGTTGGACCTTCGAATTTGGTCAAGTGCAAGCCCTGTCCC c.420
N V A Q K H W V G P S N L V K C K P C P p.140
. . . . . | 06 . g.436506
GTGGCACAGTCAGCCATGGTCTGCGGCTCAGATGGCCACTCCTACACATCCAAG | TGCAAA c.480
V A Q S A M V C G S D G H S Y T S K | C K p.160
. . . . . . g.436566
TTGGAGTTCCATGCTTGTTCTACTGGCAAAAGCCTCGCCACCCTCTGTGATGGGCCCTGT c.540
L E F H A C S T G K S L A T L C D G P C p.180
. . . . | 07 . g.511740
CCCTGTCTCCCAGAGCCTGAGCCACCAAAGCACAAGGCAGAAAGGAGTG | CCTGCACAGAC c.600
P C L P E P E P P K H K A E R S A | C T D p.200
. . . . . . g.511800
AAGGAGTTGCGGAACCTTGCCTCCCGGCTGAAGGATTGGTTTGGAGCTCTCCACGAGGAT c.660
K E L R N L A S R L K D W F G A L H E D p.220
. . . . | 08 . . g.515700
GCGAACAGAGTCATCAAGCCCACCAGCTCCAACACAGCCCAAGGCA | GGTTTGACACTAGC c.720
A N R V I K P T S S N T A Q G R | F D T S p.240
. . . . . . g.515760
ATCCTGCCCATCTGCAAGGACTCCCTGGGCTGGATGTTCAACAAGTTGGACATGAACTAT c.780
I L P I C K D S L G W M F N K L D M N Y p.260
. . . . . . g.515820
GACCTCCTGCTTGACCCTTCAGAGATCAATGCCATCTACCTGGATAAGTACGAGCCCTGT c.840
D L L L D P S E I N A I Y L D K Y E P C p.280
. . . . . . g.515880
ATCAAGCCTCTTTTCAACTCGTGTGACTCCTTCAAGGATGGCAAGCTTTCTAACAATGAG c.900
I K P L F N S C D S F K D G K L S N N E p.300
. . | 09 . . . g.519159
TGGTGCTACTGCTTCCAGAAGCCTGGAG | GTCTCCCTTGCCAGAATGAAATGAACAGAATT c.960
W C Y C F Q K P G G | L P C Q N E M N R I p.320
. . . | 10 . . . g.524889
CAGAAGCTGAGTAAGGGGAAAAGCCTGTTGG | GGGCCTTCATACCTCGGTGTAATGAGGAG c.1020
Q K L S K G K S L L G | A F I P R C N E E p.340
. . . . . . g.524949
GGCTATTACAAAGCCACACAGTGCCACGGCAGCACGGGGCAGTGCTGGTGTGTGGACAAA c.1080
G Y Y K A T Q C H G S T G Q C W C V D K p.360
. . . . | 11 . g.525496
TATGGGAATGAGTTGGCTGGCTCCAGGAAACAGGGTGCTGTGAGCTGTG | AAGAGGAGCAG c.1140
Y G N E L A G S R K Q G A V S C E | E E Q p.380
. . . . . . g.525556
GAAACCTCAGGGGATTTTGGCAGTGGTGGGTCCGTGGTCCTGCTGGATGACCTAGAATAT c.1200
E T S G D F G S G G S V V L L D D L E Y p.400
. . . . . . g.525616
GAACGGGAGCTGGGACCAAAGGACAAAGAGGGGAAGCTGAGGGTGCACACCCGAGCCGTG c.1260
E R E L G P K D K E G K L R V H T R A V p.420
. . . . . . g.525676
ACAGAGGATGATGAGGATGAGGATGATGACAAAGAGGATGAGGTCGGGTACATATGGTAG c.1320
T E D D E D E D D D K E D E V G Y I W X p.439
. . . . . . g.525736
tgcccacaagaaagaggacacaagttttgcacaaaattgcaagtcacttcctattcctgc c.*60
. . . . . . g.525796
atttgtatctaagactccaaggcaccaaggtctcttctccattgttgctctctatacccg c.*120
. . . . . . g.525856
acctaaggtttggaagacaactgcttgttcccagaggattctgattttgcatatgtttgt c.*180
. . . . . . g.525916
atgggagaaagggtgttgtgttttttttttgttgttgtttattttttggatagggaagtc c.*240
. . . . . . g.525976
attggcttaattagagcctccttcctttctgtgagatttttccaacaagcatgtgattta c.*300
. . . . . . g.526036
cgtggaattctgacagtgcagggagccccaaccctcttaaatgtcaaagaccctttttga c.*360
. . . . . . g.526096
ttacccacactggtggttattacagcatggttcccagccttacagtgtctaagtgcttct c.*420
. . . . . . g.526156
cttgtgtcctgtagatgttgtgaaaaagaaaaaaacaaaaaatacaccacactgtacttt c.*480
. . . . . . g.526216
ttccccctgcccccgttactgccggtgattattattaaaaattagtttttttcacatcat c.*540
. . . . . . g.526276
tatatctggcttcctataaacaacagccttaattcagtcaagactccctttggggaattc c.*600
. . . . . . g.526336
attttattaaaaattggtgtctggatacttccctgtacatgcataaatatgcatgcatgt c.*660
. . . . . . g.526396
acagaaagactgtatgtgtgtgccttgcacacacacccatacctctcagaaaaagtgttt c.*720
. . . . . . g.526456
gggtatcttaaaaactcgaaaaacaatgataaatttctcagcttgtccagacctggaaca c.*780
. . . . . . g.526516
aaatttctggaataagaaatttgtattaaagtccttttttgcactaacagttggctcttg c.*840
. . . . . . g.526576
tagcctgcaggctgaggaagtctcttctctgtgcatcagcagagttactgaaagcctctg c.*900
. . . . . . g.526636
attgagaaaaaacctccgtctgcctaaatcacttttctcgcagaagccatgcgactccca c.*960
. . . . . . g.526696
cacgacacgggcagcttcacaagccatctctttcatttctgcttgaagccccttggctgc c.*1020
. . . . . . g.526756
agcaatcctgtctgccataggtttcttccttccttacctactcaagggctttttctaagg c.*1080
. . . . . . g.526816
catgcacacatatctcctgttctctgagagtaccatggtgttccttaaaagaagaaaatt c.*1140
. . . . . . g.526876
tctaattctgaactcaatgttttgcttttactccctttctactgacaaatcatgataagg c.*1200
. . . . . . g.526936
gcacaaaagctgtacagatttttttttttaaccactcaatcccaaatggaggcctacaaa c.*1260
. . . . . . g.526996
gaacatcgtaataacacatggaagcaaaccctgggtttttaagagcaaattctgtccccc c.*1320
. . . . . . g.527056
cctcactcccccaagtgacaagatactaatgaagaaagttcttcaccatagtgtttgttt c.*1380
. . . . . . g.527116
taactaaactcattggagtctagttccaaatttggtagggtcatcatctctacattcctt c.*1440
. . . . . . g.527176
aggatttctctccctatcaagctggcccagatacaagtaccaaacagtagtctctgaagt c.*1500
. . . . . . g.527236
tcccccatttccttcagtaccagtctataagctactgtccgccactgattttcatttatc c.*1560
. . . . . . g.527296
agggtgtcctaatcagaatcagccacccaagcaagcctctctggcccacatatctatctc c.*1620
. . . . . . g.527356
ttgccttcccccatgaacttcagcctgtccacacaaaagccacataaactcaagcaagaa c.*1680
. . . . . . g.527416
atatgttcagccaaaacatgattatagtggcagctgaccaatcccccatcccaaattgac c.*1740
. . . . . . g.527476
catttagatgtaccaactcaccttaaattagcatgttccaatccagtcggcattgcctga c.*1800
. . . . . . g.527536
atacagtagcatcatacctatagttggtcttagataagaaatgaactacttgatatagca c.*1860
. . . . . . g.527596
aagtcctttggcttcgtaaataaccctgaggttttgtacttactttccccataggaagac c.*1920
. . . . . . g.527656
agaccataggcaaactctgttttgggatctcaactccatcacctttgtttcaatattttt c.*1980
. . . . . . g.527716
tttctctcttgaacaaaactgagataatttagaaaacaggtgcttaattgcaataaaatt c.*2040
. . . . . . g.527776
actatgaagtatattaaaaatcacgacattgtaaaatctcactttagatcatcaaagaaa c.*2100
. . . . . . g.527836
accattgttactatctcctttgagcttaggaaaatgtacaagagaacaaattaaaattga c.*2160
. . . . . . g.527896
aaaattgatttcacttagaaaaacttctaggaacagggtgaaccactgattttaatttgc c.*2220
. . . . . . g.527956
ctaattatcttatgacaagtatcaaattaagatgacacttaaagatccttagcattaact c.*2280
. . . . . . g.528016
taatgatggagaagagtgctcaatagacagttcccagtaaggtaatgagatgccattttc c.*2340
. . . . . . g.528076
agagacattctaagaagatattttgattcattaaaacattaaataaaaagccctcctcag c.*2400
. . . . . . g.528136
attggaacccccaaatcgatggagccacattaataatacttttcatgcctcactttgaca c.*2460
. . . . . . g.528196
tgacagcattcgatttttttaaagatctttaatactttccatgagtactaaagattgtaa c.*2520
. . . . . . g.528256
tgagttaccttatccttagaagtagaatgtttgctttcttcttcttggaaatagtcctcc c.*2580
. . . . . . g.528316
aaaaagtccacttgtaccagtgacaagaagtcacttgtatagtgaccaagtacacataaa c.*2640
. . . . . . g.528376
atactgattataaaaatattgtaataaaccacttcctcatttgatacaggtattaagctg c.*2700
. . . . . . g.528436
aatcctcactaattcacttttgaaaagttcttaatgaacagttttattcttattccatga c.*2760
. . . . . . g.528496
acagctcttttaatacaatttccttggtatccaacttaaatcccagaattttgttccacc c.*2820
. . . . . . g.528556
atggttagttatttgccatatgaatgtattcttgtttctaccaatattctaggcatgaga c.*2880
. . . . . . g.528616
ataccttaatactgagttggagattttgtatctgtttctcctcctttacgcccattttcc c.*2940
. . . . . . g.528676
tacccacagcagcaaatgacaacgtgtctgtccaggtctgtccccctgctcatcccagga c.*3000
. . . . . . g.528736
tgccactcacatttttttcttcttgttaccttgaccacgctgtacagtaacatccaagag c.*3060
. . . . . . g.528796
cccattctacagtgggtggttttggtctttttataactttttctcaaagtcactgatgtt c.*3120
. . . . . . g.528856
tgttcctgttaaatgtatagcattgtaatgagagcccatcaaatcctgagtgtcagtttg c.*3180
. . . . . . g.528916
ttgtccctattgtagatgaaatagtgatgtagcaaaaacctagtaaattctgaatgcttt c.*3240
. . . . . . g.528976
tccacgtagacttatctggaatgtgaacacaactctttggttaatagtaaatgcttaact c.*3300
. . . . . g.529032
gtagtcctgagtaggtgcatttctgtctgtctcaataaattttactttgtctgcaa c.*3356
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 09
©2004-2014 Leiden University Medical Center