(used for variant description)
(last modified July 25, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_181507.1 in the HPS5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008877.1, covering HPS5 transcript NM_181507.1.
(upstream sequence)
. . . g.5038
cgcgaggggagactgaagttcacgttccgctcttagtg c.-241
. . . . . . g.5098
cgcggtgagttccccggcgctaagccgggagacaagatccgatctactgagagctgcgag c.-181
. . . . . . g.5158
gtactgccctggatgtggtggagctgggctgggacctccgggctgctggtctgtgagcct c.-121
. . . . . . g.5218
ggctttgaaaattggttactgggtctcctctcaagaaatctcaagatattaaagttactg c.-61
. . | 02 . . . . g.9316
ctgttaaaaag | gtgaggaatactgtatctatcattcaacaagtttcagctttctggctaa c.-1
. . . . . . g.9376
ATGGCTTTTGTGCCAGTGATACCAGAGTCCTACAGCCATGTTCTTGCAGAGTTTGAATCT c.60
M A F V P V I P E S Y S H V L A E F E S p.20
. . . . | 03 . g.15162
CTGGATCCATTACTCTCAGCCCTGCGGCTGGACTCCAGTCGTCTAAAG | TGCACGAGCATA c.120
L D P L L S A L R L D S S R L K | C T S I p.40
. . . . . . g.15222
GCTGTGTCTCGGAAATGGTTGGCTTTGGGCAGTTCAGGAGGAGGACTCCATCTCATTCAG c.180
A V S R K W L A L G S S G G G L H L I Q p.60
. . . | 04 . . g.15744
AAAGAAGGCTGGAAGCACAGGCTTTTTCTTTCACACAGG | GAAGGTGCAATTTCTCAAGTC c.240
K E G W K H R L F L S H R | E G A I S Q V p.80
. . . . | 05 . . g.16257
GCCTGTTGTTTACATGATGATGATTATGTTGCTGTAGCTACCAG | TCAAGGTCTTGTGGTT c.300
A C C L H D D D Y V A V A T S | Q G L V V p.100
. . . . . . g.16317
GTTTGGGAATTAAATCAAGAGCGTCGTGGGAAACCGGAACAAATGTATGTGTCTTCAGAA c.360
V W E L N Q E R R G K P E Q M Y V S S E p.120
. . . . . . g.16377
CACAAAGGCCGAAGAGTCACAGCTCTCTGCTGGGATACAGCTATTCTTAGAGTTTTTGTA c.420
H K G R R V T A L C W D T A I L R V F V p.140
. . . . . | 06. g.18098
GGTGATCATGCTGGGAAGGTTTCTGCTATCAAACTCAATACTTCTAAACAAGCAAAG | GCA c.480
G D H A G K V S A I K L N T S K Q A K | A p.160
. . . . . . g.18158
GCTGCTGCTTTTGTGATGTTTCCTGTTCAGACAATCACAACTGTTGACTCCTGTGTTGTA c.540
A A A F V M F P V Q T I T T V D S C V V p.180
. . . . . . g.18218
CAGTTAGATTATTTGGATGGAAGGCTACTTATATCTTCACTTACTCGATCCTTCTTGTGT c.600
Q L D Y L D G R L L I S S L T R S F L C p.200
. | 07 . . . . . g.20876
GACACTGAGAG | AGAAAAGTTTTGGAAAATTGGAAACAAGGAAAGAGATGGAGAATATGGA c.660
D T E R | E K F W K I G N K E R D G E Y G p.220
. . . . . . g.20936
GCTTGTTTCTTTCCTGGAAGATGTTCTGGGGGCCAGCAACCTCTGATATATTGTGCTCGC c.720
A C F F P G R C S G G Q Q P L I Y C A R p.240
. . . . . . g.20996
CCAGGCTCTAGGATGTGGGAAGTGAACTTTGATGGAGAAGTTATAAGTACACATCAGTTC c.780
P G S R M W E V N F D G E V I S T H Q F p.260
. . . . | 08 . . g.21697
AAGAAACTCCTCTCGTTGCCACCTCTCCCTGTGATTACTCTCAG | ATCAGAACCTCAGTAT c.840
K K L L S L P P L P V I T L R | S E P Q Y p.280
. . . . . | 09 . g.26262
GATCATACAGCTGGATCCTCCCAGTCTTTGTCTTTCCCCAAACTCTTACATCTTAG | TGAG c.900
D H T A G S S Q S L S F P K L L H L S | E p.300
. . . . . . g.26322
CATTGTGTGCTGACTTGGACAGAAAGAGGAATTTATATTTTCATTCCTCAGAATGTTCAA c.960
H C V L T W T E R G I Y I F I P Q N V Q p.320
. . | 10 . . . . g.28239
GTTCTTCTTTGGAGTGAAGTCAAAG | ATATTCAGGATGTGGCTGTCTGTAGGAATGAATTG c.1020
V L L W S E V K D | I Q D V A V C R N E L p.340
. . . . . . g.28299
TTCTGTTTGCACCTAAATGGGAAAGTCTCACATCTCTCCCTGATATCTGTGGAGCGCTGT c.1080
F C L H L N G K V S H L S L I S V E R C p.360
. . . . . . g.28359
GTGGAACGCCTGCTAAGAAGAGGCCTATGGAACTTGGCTGCTCGTACATGCTGTCTTTTC c.1140
V E R L L R R G L W N L A A R T C C L F p.380
. . | 11 . . . . g.29493
CAAAATTCTGTCATTGCCAGCAGA | GCAAGAAAAACTTTGACTGCAGATAAATTGGAGCAT c.1200
Q N S V I A S R | A R K T L T A D K L E H p.400
. . . . . . g.29553
TTGAAATCTCAGCTGGACCATGGCACCTACAATGATCTAATTTCTCAACTGGAAGAATTG c.1260
L K S Q L D H G T Y N D L I S Q L E E L p.420
. . . . . . g.29613
ATCTTAAAATTTGAACCTTTGGATTCAGCTTGTAGCAGTAGAAGAAGCTCCATTTCATCA c.1320
I L K F E P L D S A C S S R R S S I S S p.440
| 12 . . . . . . g.30247
CAT | GAAAGTTTCAGCATCTTGGACTCTGGTATTTATCGTATCATTAGTAGTAGAAGAGGC c.1380
H | E S F S I L D S G I Y R I I S S R R G p.460
. . . . . . g.30307
AGTCAGTCAGATGAAGACTCTTGCTCCCTTCACAGCCAAACCCTCTCAGAAGATGAGAGA c.1440
S Q S D E D S C S L H S Q T L S E D E R p.480
. . . . . . g.30367
TTTAAAGAATTCACCTCACAGCAGGAAGAGGACCTGCCAGATCAGTGTTGTGGCTCACAC c.1500
F K E F T S Q Q E E D L P D Q C C G S H p.500
. | 13 . . . . . g.31102
GGAAATGAAG | ACAATGTTTCTCATGCTCCAGTGATGTTTGAGACAGATAAGAATGAAACT c.1560
G N E D | N V S H A P V M F E T D K N E T p.520
. . . . . . g.31162
TTTCTCCCGTTCGGCATTCCATTACCATTTCGTTCTCCATCTCCTCTTGTGTCTCTTCAG c.1620
F L P F G I P L P F R S P S P L V S L Q p.540
. | 14 . . . . . g.32051
GCTGTCAAAGAAAG | TGTTTCTAGCTTTGTGCGTAAAACTACTGAGAAGATTGGCACCCTT c.1680
A V K E S | V S S F V R K T T E K I G T L p.560
. . . . . . g.32111
CACACGAGCCCTGATCTGAAAGTGAGACCAGAGCTCAGGGGTGATGAGCAATCATGTGAA c.1740
H T S P D L K V R P E L R G D E Q S C E p.580
. . . . | 15 . . g.34214
GAGGATGTGAGTTCAGATACCTGCCCAAAGGAGGAAGACACTGA | GGAGGAAAAAGAGGTA c.1800
E D V S S D T C P K E E D T E | E E K E V p.600
. . . . . . g.34274
ACTAGTCCACCTCCAGAAGAAGACAGGTTCCAGGAGCTTAAAGTAGCAACAGCAGAAGCA c.1860
T S P P P E E D R F Q E L K V A T A E A p.620
| 16 . . . . . . g.35213
AT | GACCAAGCTACAGGACCCTCTGGTTTTATTTGAATCCGAGTCTCTGAGAATGGTTTTA c.1920
M | T K L Q D P L V L F E S E S L R M V L p.640
. . . . . . g.35273
CAGGAGTGGCTTTCACATTTAGAAAAAACATTTGCCATGAAGGACTTTTCAGGTGTTTCA c.1980
Q E W L S H L E K T F A M K D F S G V S p.660
. . . . . . g.35333
GATACTGACAACTCATCCATGAAATTGAACCAGGATGTGCTATTAGTTAATGAATCAAAA c.2040
D T D N S S M K L N Q D V L L V N E S K p.680
. . . . . . g.35393
AAGGGAATATTAGATGAAGATAATGAAAAAGAAAAAAGGGACTCTTTAGGCAATGAAGAA c.2100
K G I L D E D N E K E K R D S L G N E E p.700
. . . . . . g.35453
TCTGTTGATAAAACAGCATGTGAATGTGTAAGGAGTCCAAGGGAGTCTTTGGATGACCTG c.2160
S V D K T A C E C V R S P R E S L D D L p.720
. . . . . . g.35513
TTTCAAATATGTTCTCCATGCGCCATTGCAAGTGGTCTTCGGAACGACCTGGCTGAATTG c.2220
F Q I C S P C A I A S G L R N D L A E L p.740
. . . . . . g.35573
ACAACATTATGTTTGGAGTTGAATGTATTGAATTCTAAGATCAAAAGCACCAGTGGACAT c.2280
T T L C L E L N V L N S K I K S T S G H p.760
. . . . . . g.35633
GTGGACCACACTTTGCAACAGTACTCTCCTGAAATTCTGGCTTGCCAGTTCCTGAAGAAG c.2340
V D H T L Q Q Y S P E I L A C Q F L K K p.780
. . . . . . g.35693
TACTTTTTTCTCCTGAACTTGAAAAGAGCGAAGGAGAGTATCAAGCTTAGTTACAGTAAT c.2400
Y F F L L N L K R A K E S I K L S Y S N p.800
. . . . | 17 . . g.39181
AGCCCTTCTGTTTGGGATACTTTTATTGAAGGATTGAAAG | AAATGGCAAGTTCCAATCCT c.2460
S P S V W D T F I E G L K E | M A S S N P p.820
. . . . . . g.39241
GTGTATATGGAGATGGAAAAAGGAGATCTACCAACAAGGTTAAAGTTACTAGATGACGAG c.2520
V Y M E M E K G D L P T R L K L L D D E p.840
. . . . | 18 . . g.39503
GTTCCTTTTGATAGTCCGTTGTTGGTTGTTTATGCTACCCG | GTTGTATGAAAAGTTTGGG c.2580
V P F D S P L L V V Y A T R | L Y E K F G p.860
. . . . . . g.39563
GAGTCTGCTCTTCGATCCTTAATCAAGTTCTTTCCATCCATTTTGCCATCGGATATCATA c.2640
E S A L R S L I K F F P S I L P S D I I p.880
. . . . . . g.39623
CAACTTTGTCATCATCATCCTGCTGAGTTTTTGGCCTATTTAGACAGTCTGGTGAAATCA c.2700
Q L C H H H P A E F L A Y L D S L V K S p.900
. | 19. . . . . g.40507
AGGCCTGAAGATCAGCG | GTCATCTTTTCTTGAGTCCCTTCTGCAACCAGAGTCTTTAAGG c.2760
R P E D Q R | S S F L E S L L Q P E S L R p.920
. . . . . . g.40567
TTGGATTGGCTGCTTTTGGCAGTGTCCCTTGATGCTCCACCAAGCACCAGCACAATGGAT c.2820
L D W L L L A V S L D A P P S T S T M D p.940
. | 20. . . . . g.41758
GATGAAGGTTATCCCAG | GCCTCATTCACACTTGCTTTCCTGGGGTTACAGTCAGCTGATC c.2880
D E G Y P R | P H S H L L S W G Y S Q L I p.960
. . . . . . g.41818
CTTCATCTAATTAAACTTCCTGCAGATTTTATAACCAAAGAGAAAATGACAGACATCTGC c.2940
L H L I K L P A D F I T K E K M T D I C p.980
. | 21 . . . . . g.43322
AGGTCTTGTGG | TTTCTGGCCTGGATATCTAATTCTCTGTTTGGAGCTGGAGAGAAGAAGA c.3000
R S C G | F W P G Y L I L C L E L E R R R p.1000
. . . . . | 22 g.44956
GAGGCCTTCACCAATATTGTGTATCTGAATGATATGAGCCTGATGGAAGGGGACAATG | GT c.3060
E A F T N I V Y L N D M S L M E G D N G | p.1020
. . . . . . g.45016
TGGATCCCAGAGACCGTGGAGGAATGGAAGCTTCTCCTTCATCTCATACAGAGCAAGAGC c.3120
W I P E T V E E W K L L L H L I Q S K S p.1040
. . . . . . g.45076
ACGAGGCCAGCCCCCCAGGAGTCACTAAATGGGAGCCTCAGTGATGGGCCTTCCCCCATC c.3180
T R P A P Q E S L N G S L S D G P S P I p.1060
. . . . . . g.45136
AATGTGGAGAATGTGGCACTTCTGTTAGCTAAGGCCATGGGCCCAGATCGGGCTTGGTCA c.3240
N V E N V A L L L A K A M G P D R A W S p.1080
. . . . . . g.45196
CTGCTACAGGAATGTGGTCTGGCCCTTGAGTTGTCAGAGAAGTTTACCAGAACCTGCGAT c.3300
L L Q E C G L A L E L S E K F T R T C D p.1100
. . | 23 . . . g.47263
ATCCTGAGGATTGCTGAGAAAAGGCAGAG | GGCCTTGATACAAAGCATGCTTGAAAAATGC c.3360
I L R I A E K R Q R | A L I Q S M L E K C p.1120
. . . g.47293
GATCGGTTTCTCTGGTCCCAGCAGGCCTAG c.3390
D R F L W S Q Q A X p.1129
. . . . . . g.47353
tgggagaagattcagcaggatgtcatgacattttgagaaaaactaaatcatgctcctgaa c.*60
. . . . . . g.47413
ccttctgaacgcatttgttattgaaggaaagacaccacccccaaatcctgccatcttatt c.*120
. . . . . . g.47473
ggggctacttttgtcagtgtctgtacccttggcatcggcatctgtgactctttatccatg c.*180
. . . . . . g.47533
acctcagtgtttcttaaccaaagttgtactcagcatttcttaaccaaagttgaattttga c.*240
. . . . . . g.47593
aaagagtcagtccttgtttgctggaattagaatgttaatgtcctagtattattccgaact c.*300
. . . . . . g.47653
acagtattaactgcttgttgctagtggattagacagattcttttcttactgtggcttcca c.*360
. . . . . . g.47713
tgttgggagcagaagcttttcatcctggtcacatgaagacagatggtattattgactgga c.*420
. . . . . . g.47773
gttgaattatttttatatcttgtctggcacaatatggaaattactgaaataagacggtgt c.*480
. . . . . . g.47833
ataatggaattaacacccaaaataagtagaacactgaagatttgaatttgatatttaagt c.*540
. . . . . . g.47893
aaaatgggactgggtgcagtggctcaggcctgtaatcccaaccctttggaaggtaaagac c.*600
. . . . . . g.47953
gggaggatcacttgaggccaggagttcaagaccagcctgggcaacatagtgagaatgcat c.*660
. . . . . . g.48013
ctctacaaaaaataaaaaaaattagctaggcatagtacctgaggccaggaggtccaggcc c.*720
. . . . . . g.48073
gcaatgagatgtgtttgtgccattgcacaccagtctgggtgacagagaaagaccctgtct c.*780
. . . . . . g.48133
caaaaacaaattaaataaaatatcttcatatataaattaagctaattaaaaatatttttc c.*840
. . . . . . g.48193
cctgtatttatttaatattttctaatctgaacccatatacagctgactaattcattctta c.*900
. . . . . . g.48253
gaaatgtgttatctgtaatctttcctaaacagagtagcccacaagaatcatgcacttttt c.*960
. . . . . . g.48313
aaaattatttctaagaagccataacaaagctgtgtactaataaagactgcagcaagcact c.*1020
. . . . . . g.48373
tgtgttatttaaattatgtaagtagattgtcatttgtcaggctcctgtacatttacatag c.*1080
. . . . . . g.48433
catgttatattaataataaatgtaaaatatgactaaagttttcattggaacacaatgtag c.*1140
. . . . . . g.48493
acaggaggtttattatgagcattttgcagaaaggtgtggagtaagtaaagtgttggatgc c.*1200
. g.48505
actgaacaattc c.*1212
(downstream sequence)
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