(used for mutation description)
(last modified May 2, 2014)
This file was created to facilitate the description of sequence variants in the HPS3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering HPS3 transcript NM_032383.3.
(upstream sequence)
. . g.1020
ccgcgggcggggccggctgg c.-121
. . . . . . g.1080
cgttcacgtgacccggcgtcattggctcgctcgcggaagtagtcctacattcgcggtcag c.-61
. . . . . . g.1140
cgcggggtctccgggcgccctgcagggcgggcaggctgtgccatcccgccggacgtcggg c.-1
. . . . . . g.1200
ATGGTGCAGCTGTACAACCTGCACCCGTTCGGGTCGCAGCAGGTGGTGCCCTGCAAGCTG c.60
M V Q L Y N L H P F G S Q Q V V P C K L p.20
. . . . . . g.1260
GAGCCGGACCGGTTCTGTGGCGGGGGGCGTGACGCGCTTTTCGTGGCGGCGGGCTGCAAG c.120
E P D R F C G G G R D A L F V A A G C K p.40
. . . . . . g.1320
GTGGAGGCGTTCGCGGTGGCCGGCCAGGAGCTGTGCCAGCCGCGGTGCGCCTTCTCCACG c.180
V E A F A V A G Q E L C Q P R C A F S T p.60
. . . | 02. . . g.11443
CTGGGCCGGGTGTTGCGCCTGGCCTACAGCGAGGCTG | GAGATTATTTGGTAGCAATTGAA c.240
L G R V L R L A Y S E A G | D Y L V A I E p.80
. . . . . . g.11503
GAGAAAAACAAAGCTACATTTCTACGTGCTTATGTGAACTGGAGAAATAAAAGGACTGAA c.300
E K N K A T F L R A Y V N W R N K R T E p.100
. . . . . . g.11563
AACTCTCGTGTGTGTATCCGAATGATTGGGCATAATGTGGAGGGACCATTCAGCAAAGCC c.360
N S R V C I R M I G H N V E G P F S K A p.120
. . . . . . g.11623
TTCAGAGACCAGATGTACATTATTGAAATGCCGCTTTCGGAGGCCCCCTTGTGCATTTCC c.420
F R D Q M Y I I E M P L S E A P L C I S p.140
. . . . . . g.11683
TGTTGCCCTGTGAAAGGAGACCTTCTCGTTGGCTGCACAAATAAATTAGTCTTATTTAGT c.480
C C P V K G D L L V G C T N K L V L F S p.160
. . . . . . g.11743
TTGAAGTACCAGATCATTAATGAGGAATTCTCACTATTGGACTTTGAACGTTCTTTAATT c.540
L K Y Q I I N E E F S L L D F E R S L I p.180
. . . . . . g.11803
ATACACATAGATAATATCACTCCTGTTGAGGTTTCTTTTTGTGTTGGATATGTTGCTGTC c.600
I H I D N I T P V E V S F C V G Y V A V p.200
. . . . . . g.11863
ATGTCAGACTTAGAAGTCTTAATCGTAAAACTGGAGTCAGGCCCTAAAAATGGAGAGAGA c.660
M S D L E V L I V K L E S G P K N G E R p.220
. . . . . | 03 . g.12441
GTTCACCACCATCCACATAAGACCAACAATCGAATAAGACGGACAGAAGAAG | GCATCAGT c.720
V H H H P H K T N N R I R R T E E G | I S p.240
. . . . . . g.12501
AATGAAATTTCACAGCTTGAGTCAGATGATTTTGTCATCTGCCAGAAGCCCCTGGAACTT c.780
N E I S Q L E S D D F V I C Q K P L E L p.260
. . . . . . g.12561
CTTGGTGAAAAAAGTGAACAGTCTGGATTATCTGTTACACTGGAGTCTACGGGATTAGCT c.840
L G E K S E Q S G L S V T L E S T G L A p.280
. . . . | 04 . . g.12727
GATGAAAAAAGAAAATATTCCCACTTTCAGCACCTGCTCTATAG | ACGTTTTGCTCCTGAT c.900
D E K R K Y S H F Q H L L Y R | R F A P D p.300
. . . . . . g.12787
ATTTCGTCCTATGTCTTGTCTGATGACATCAAGCTACATTCCCTCCAGCTGCTACCCATT c.960
I S S Y V L S D D I K L H S L Q L L P I p.320
. | 05 . . . . . g.16820
TACCAGACCG | GTTCTCTTACATCTGATGGAAAAAATTTGTCTCAGGAAAAAGAATTGCTG c.1020
Y Q T G | S L T S D G K N L S Q E K E L L p.340
. . . . . . g.16880
AGTCTCTTTTGCTTTTTCTCCTTACCTCATGTGGGCTATCTCTACATGGTTGTCAAATCT c.1080
S L F C F F S L P H V G Y L Y M V V K S p.360
. . . . . . g.16940
GTTGAATTGATGTCAGTCTACCAGTATCCTGAAAAGTCTCAGCAGGCAGTACTCACGCCA c.1140
V E L M S V Y Q Y P E K S Q Q A V L T P p.380
. . | 06 . . . . g.22052
CAATTTTTGCACGTCATTACAAG | TAACAACCTGCAGTGTTTCACTGTGCGGTGCAGTGCG c.1200
Q F L H V I T S | N N L Q C F T V R C S A p.400
. . . . | 07 . . g.24925
GCGGCAGCTCGTGAGGAGGACCCGTACATGGACACCACCCTGAAG | GCTTGCCCACCTGTC c.1260
A A A R E E D P Y M D T T L K | A C P P V p.420
. . . . . . g.24985
AGTATGGATGTCTGTGCTTTAAGAATACAGCTTTTCATAGGCTTGAAAGCCATCTGTCAC c.1320
S M D V C A L R I Q L F I G L K A I C H p.440
. . . . . . g.25045
TTTAAAAACCACATCATACTTTTGACTAAAGCAGAACCTGAAGCCATTCCAGAGAGAAGA c.1380
F K N H I I L L T K A E P E A I P E R R p.460
. . | 08 . . . . g.26563
CAGTCACCCAAGAGGCTTCT | TTCGAGAAAAGATACCAGTGTTAAAATCAAAATACCTCCT c.1440
Q S P K R L L | S R K D T S V K I K I P P p.480
. . . . . . g.26623
GTAGCTGAGGCTGGGTGGAATTTGTATATTGTGAATACGATCTCACCAGTGCAGCTGTAC c.1500
V A E A G W N L Y I V N T I S P V Q L Y p.500
| 09 . . . . . g.28817
AAAGAGATG | GTAGACTATAGCAATACCTATAAGACTGTCAAAACCCAGAGCTGCATTCAC c.1560
K E M | V D Y S N T Y K T V K T Q S C I H p.520
. . . . . . g.28877
CTTCTCAGTGAGGCTCATCTGTTAGTGCGAGCTGCCCTGATGGATGCCAGTCAGCTGGAA c.1620
L L S E A H L L V R A A L M D A S Q L E p.540
. . . . . . g.28937
CCTGGAGAGAAGGCAGAGCTTTTGGAAGCATTTAAGGAAAGCTGTGGGCACCTTGGGGAC c.1680
P G E K A E L L E A F K E S C G H L G D p.560
. | 10 . . . . . g.30131
TGTTACAGCAG | GCTTGACTCCCAGCATTCTCATCTCACCTTGCCATACTATAAGATGTCT c.1740
C Y S R | L D S Q H S H L T L P Y Y K M S p.580
. . . . . . g.30191
GGTTTGTCTATGGCTGAAGTTCTGGCCCGCACGGACTGGACAGTAGAGGATGGATTACAG c.1800
G L S M A E V L A R T D W T V E D G L Q p.600
. . . . . . g.30251
AAATACGAGAGAGGATTAATCTTTTACATTAATCATTCACTTTATGAAAACCTGGATGAA c.1860
K Y E R G L I F Y I N H S L Y E N L D E p.620
. | 11 . . . . . g.31510
GAATTAAATGAA | GAATTAGCAGCAAAAGTGGTTCAGATGTTTTATGTGGCTGAGCCAAAG c.1920
E L N E | E L A A K V V Q M F Y V A E P K p.640
. . . . . . g.31570
CAAGTGCCCCATATTCTCTGTAGTCCTTCTATGAAGAATATTAATCCTTTAACTGCCATG c.1980
Q V P H I L C S P S M K N I N P L T A M p.660
. . . . . . g.31630
AGCTATCTAAGGAAGCTGGATACTTCTGGGTTTTCATCGATCTTAGTGACATTGACCAAG c.2040
S Y L R K L D T S G F S S I L V T L T K p.680
. . . . . . g.31690
GCAGCAGTGGCTCTGAAAATGGGAGATCTTGACATGCACAGAAATGAAATGAAAAGCCAT c.2100
A A V A L K M G D L D M H R N E M K S H p.700
| 12 . . . . . . g.33618
TCAGAG | ATGAAGTTGGTATGTGGCTTCATTCTGGAACCTCGGCTGTTGATTCAACAGAGA c.2160
S E | M K L V C G F I L E P R L L I Q Q R p.720
. . . . . . g.33678
AAGGGACAGATTGTTCCAACCGAGCTTGCACTTCACTTGAAGGAAACTCAGCCTGGATTG c.2220
K G Q I V P T E L A L H L K E T Q P G L p.740
. . . . . . g.33738
CTTGTGGCTTCAGTTCTGGGCTTGCAGAAGAACAACAAAATTGGAATTGAAGAAGCAGAT c.2280
L V A S V L G L Q K N N K I G I E E A D p.760
. | 13 . . . . . g.34154
TCCTTTTTTAAG | GTGCTTTGTGCTAAGGATGAAGATACAATTCCTCAGCTCTTGGTAGAC c.2340
S F F K | V L C A K D E D T I P Q L L V D p.780
. . . . . . g.34214
TTTTGGGAAGCTCAGCTAGTGGCATGTCTCCCAGATGTGGTACTTCAGGAACTCTTTTTC c.2400
F W E A Q L V A C L P D V V L Q E L F F p.800
. . . . . . g.34274
AAACTCACATCACAGTACATCTGGAGATTGTCTAAGAGGCAGCCTCCTGACACCACACCA c.2460
K L T S Q Y I W R L S K R Q P P D T T P p.820
. . | 14 . . . . g.35297
TTGCGAACATCGGAGGATCTG | ATAAATGCCTGTAGTCATTATGGCTTAATTTATCCATGG c.2520
L R T S E D L | I N A C S H Y G L I Y P W p.840
. . . . . . g.35357
GTTCACGTCGTAATATCATCTGATTCTTTAGCTGATAAAAATTATACAGAAGATCTTTCA c.2580
V H V V I S S D S L A D K N Y T E D L S p.860
| 15 . . . . . g.38501
AAATTACAG | TCTCTTATATGTGGTCCTTCATTTGACATAGCTTCCATTATTCCGTTCTTG c.2640
K L Q | S L I C G P S F D I A S I I P F L p.880
. . . . . . g.38561
GAGCCACTTTCAGAAGACACTATTGCCGGCCTCAGTGTCCATGTTCTGTGTCGTACACGC c.2700
E P L S E D T I A G L S V H V L C R T R p.900
. . . . . . g.38621
TTGAAAGAGTATGAACAGTGCATAGACATACTGTTAGAGAGATGCCCGGAGGCAGTCATT c.2760
L K E Y E Q C I D I L L E R C P E A V I p.920
. . . | 16 . . . g.39333
CCATATGCTAATCATGAACTGAAAGAAGAGAACCGG | ACTCTGTGGTGGAAAAAACTGTTG c.2820
P Y A N H E L K E E N R | T L W W K K L L p.940
. . . . . . g.39393
CCTGAACTTTGTCAGAGAATAAAATGTGGTGGAGAGAAGTATCAACTCTACCTGTCATCA c.2880
P E L C Q R I K C G G E K Y Q L Y L S S p.960
| 17. . . . . . g.43564
TTAAAAG | AAACATTGTCAATTGTTGCTGTGGAACTAGAACTGAAGGATTTCATGAATGTT c.2940
L K E | T L S I V A V E L E L K D F M N V p.980
. . . . . . g.43624
CTCCCAGAAGATGGTACTGCAACATTTTTCTTGCCATATCTTCTCTATTGCAGTCGAAAG c.3000
L P E D G T A T F F L P Y L L Y C S R K p.1000
. g.43639
AAACCATTGACTTAA c.3015
K P L T X p.1004
. . . . . . g.43699
aggtatcatttgaaaaataccataatggcatttgagactgaatttctaaaaattgaatgc c.*60
. . . . . . g.43759
caaagtacaagtagaggagttttttattttatatatcacacacacacacacacacacaca c.*120
. . . . . . g.43819
cacacacacacacatatatgatacaaatgctttcaggctgcttaccttaccgtgtagtgg c.*180
. . . . . . g.43879
taactattcacttcttaatttatgacctcaatcaatttaattgtctagaatgtaaaaagt c.*240
. . . . . . g.43939
ctttaagacataagaattcctcaaagaagccatacattttttaaggtggggattgacttt c.*300
. . . . . . g.43999
tattccaaggaacaacatcagttcactgttgttggagacatgacaatcattttcatccca c.*360
. . . . . . g.44059
agaacactttaaggaaacattttacaagtatgcttgaaagaatgtcactaactggtccag c.*420
. . . . . . g.44119
aattttatcttcttgatttttccagatttctctatgtttttgagaaagatgttaatgttt c.*480
. . . . . . g.44179
tgccatggtaaaagatttcaaacctcattttttttgttccttttcttgttacttttaaga c.*540
. . . . . . g.44239
aaactcatgctctgtttctctgaatcaaatgaagtagaagtttacaaagctaactttctt c.*600
. . . . . . g.44299
cttgtctagctattaacatgatttgtcaaatgcatgtttttttcagccaaagccttgttt c.*660
. . . . . . g.44359
ccatttttgttgatgtgtactcttgctcttttagctagagtgtatgtgaaaataaagaaa c.*720
. . . . . . g.44419
tacatcattgtattcacaaccatgtgtcttcatttataactttttgtttaaaaaattttt c.*780
. . . . . . g.44479
agttcaagtttagttcattgatattatcctctgaatgcagttaaggctgggcagaaattc c.*840
. . . . . . g.44539
tactcatgtgacatctgccacaggtctattttgaagcttttcttctaatggcaatgtttg c.*900
. . . . . . g.44599
tccttaccaggatttaatctatagaattgtctctcaactctgcttttctccagttccaga c.*960
. . . . . . g.44659
taacgtccttaagaccatctgttcaggggttcacaaaactcaaatttgtgtcattctatt c.*1020
. . . . . . g.44719
ttatttattttattttttatttccttccctcataccttgcccattccctctgaatattag c.*1080
. . . . . . g.44779
gtgtgatgtcaacagcatgttagaaggatcaatgggaaggcaatgattgaaaacatttca c.*1140
. . . . . . g.44839
atgaaccttaatagtgttcctttgaggagcacccaggagaatatctggtcatagatcttt c.*1200
. . . . . . g.44899
ttttaaatgcagttttataaaaccctaacagcggtgatatcattagactgtatgaatcag c.*1260
. . . g.44935
ttttattacctagtgtacaagtgtcagtcatgtatc c.*1296
(downstream sequence)
Legend:
Powered by LOVD v.2.0 Build 34
©2004-2014 Leiden University Medical Center