(used for variant description)
(last modified July 9, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_002778.2 in the PSAP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009301.1, covering PSAP transcript NM_002778.2.
(upstream sequence)
. . . . g.5044
ggggttagcgcctgcgctctggacggctttggggcagggcagat c.-61
. . . . . . g.5104
ttatatctgcgggggatcagctgacgctccgcattgcagactgcggagtcagacggcgct c.-1
. . . . | 02 . . g.21840
ATGTACGCCCTCTTCCTCCTGGCCAGCCTCCTGGGCGCGG | CTCTAGCCGGCCCGGTCCTT c.60
M Y A L F L L A S L L G A A | L A G P V L p.20
. . . . . . g.21900
GGACTGAAAGAATGCACCAGGGGCTCGGCAGTGTGGTGCCAGAATGTGAAGACGGCGTCC c.120
G L K E C T R G S A V W C Q N V K T A S p.40
. . . . . | 03 . g.24411
GACTGCGGGGCAGTGAAGCACTGCCTGCAGACCGTTTGGAACAAGCCAACAGTG | AAATCC c.180
D C G A V K H C L Q T V W N K P T V | K S p.60
. . . . . . g.24471
CTTCCCTGCGACATATGCAAAGACGTTGTCACCGCAGCTGGTGATATGCTGAAGGACAAT c.240
L P C D I C K D V V T A A G D M L K D N p.80
| 04 . . . . . g.25125
GCCACTGAG | GAGGAGATCCTTGTTTACTTGGAGAAGACCTGTGACTGGCTTCCGAAACCG c.300
A T E | E E I L V Y L E K T C D W L P K P p.100
. . . . . . g.25185
AACATGTCTGCTTCATGCAAGGAGATAGTGGACTCCTACCTCCCTGTCATCCTGGACATC c.360
N M S A S C K E I V D S Y L P V I L D I p.120
. | 05 . . . . . g.27293
ATTAAAGGAGAAATG | AGCCGTCCTGGGGAGGTGTGCTCTGCTCTCAACCTCTGCGAGTCT c.420
I K G E M | S R P G E V C S A L N L C E S p.140
. . . . . . g.27353
CTCCAGAAGCACCTAGCAGAGCTGAATCACCAGAAGCAGCTGGAGTCCAATAAGATCCCA c.480
L Q K H L A E L N H Q K Q L E S N K I P p.160
. . . . . . g.27413
GAGCTGGACATGACTGAGGTGGTGGCCCCCTTCATGGCCAACATCCCTCTCCTCCTCTAC c.540
E L D M T E V V A P F M A N I P L L L Y p.180
. . . | 06 . . . g.28192
CCTCAGGACGGCCCCCGCAGCAAGCCCCAGCCAAAG | GATAATGGGGACGTTTGCCAGGAC c.600
P Q D G P R S K P Q P K | D N G D V C Q D p.200
. . . . . . g.28252
TGCATTCAGATGGTGACTGACATCCAGACTGCTGTACGGACCAACTCCACCTTTGTCCAG c.660
C I Q M V T D I Q T A V R T N S T F V Q p.220
. . . . . . g.28312
GCCTTGGTGGAACATGTCAAGGAGGAGTGTGACCGCCTGGGCCCTGGCATGGCCGACATA c.720
A L V E H V K E E C D R L G P G M A D I p.240
| 07 . . . . . | 08. g.34321
| TGCAAGAACTATATCAGCCAGTATTCTGAAATTGCTATCCAGATGATGATGCACATG | CAA c.780
| C K N Y I S Q Y S E I A I Q M M M H M | Q p.260
. . . . . . g.34381
CCCAAGGAGATCTGTGCGCTGGTTGGGTTCTGTGATGAGGTGAAAGAGATGCCCATGCAG c.840
P K E I C A L V G F C D E V K E M P M Q p.280
. . . . . . g.34441
ACTCTGGTCCCCGCCAAAGTGGCCTCCAAGAATGTCATCCCTGCCCTGGAACTGGTGGAG c.900
T L V P A K V A S K N V I P A L E L V E p.300
| 09 . . . . . g.36041
CCCATTAAG | AAGCACGAGGTCCCAGCAAAGTCTGATGTTTACTGTGAGGTGTGTGAATTC c.960
P I K | K H E V P A K S D V Y C E V C E F p.320
. . . . | 10 . . g.36440
CTGGTGAAGGAGGTGACCAAGCTGATTGACAACAACAAGACTGAG | AAAGAAATACTCGAC c.1020
L V K E V T K L I D N N K T E | K E I L D p.340
. . . . . . g.36500
GCTTTTGACAAAATGTGCTCGAAGCTGCCGAAGTCCCTGTCGGAAGAGTGCCAGGAGGTG c.1080
A F D K M C S K L P K S L S E E C Q E V p.360
. . . . . . g.36560
GTGGACACGTACGGCAGCTCCATCCTGTCCATCCTGCTGGAGGAGGTCAGCCCTGAGCTG c.1140
V D T Y G S S I L S I L L E E V S P E L p.380
. . . . . | 11 . g.36711
GTGTGCAGCATGCTGCACCTCTGCTCTGGCACGCGGCTGCCTGCACTGACCG | TTCACGTG c.1200
V C S M L H L C S G T R L P A L T V | H V p.400
. . . . . . g.36771
ACTCAGCCAAAGGACGGTGGCTTCTGCGAAGTGTGCAAGAAGCTGGTGGGTTATTTGGAT c.1260
T Q P K D G G F C E V C K K L V G Y L D p.420
. . . . . . g.36831
CGCAACCTGGAGAAAAACAGCACCAAGCAGGAGATCCTGGCTGCTCTTGAGAAAGGCTGC c.1320
R N L E K N S T K Q E I L A A L E K G C p.440
. . . | 12 . . . g.37244
AGCTTCCTGCCAGACCCTTACCAGAAGCAG | TGTGATCAGTTTGTGGCAGAGTACGAGCCC c.1380
S F L P D P Y Q K Q | C D Q F V A E Y E P p.460
. . . . . | 13 . g.37610
GTGCTGATCGAGATCCTGGTGGAGGTGATGGATCCTTCCTTCGTGTGCTTG | AAAATTGGA c.1440
V L I E I L V E V M D P S F V C L | K I G p.480
. . . . . . g.37670
GCCTGCCCCTCGGCCCATAAGCCCTTGTTGGGAACTGAGAAGTGTATATGGGGCCCAAGC c.1500
A C P S A H K P L L G T E K C I W G P S p.500
. . . | 14 . . g.38870
TACTGGTGCCAGAACACAGAGACAGCAGCCCAGTGCAAT | GCTGTCGAGCATTGCAAACGC c.1560
Y W C Q N T E T A A Q C N | A V E H C K R p.520
. g.38885
CATGTGTGGAACTAG c.1575
H V W N X p.524
. . . . . . g.38945
gaggaggaatattccatcttggcagaaaccacagcattggtttttttctacttgtgtgtc c.*60
. . . . . . g.39005
tgggggaatgaacgcacagatctgtttgactttgttataaaaatagggctcccccacctc c.*120
. . . . . . g.39065
ccccatttctgtgtcctttattgtagcattgctgtctgcaagggagcccctagcccctgg c.*180
. . . . . . g.39125
cagacatagctgcttcagtgccccttttctctctgctagatggatgttgatgcactggag c.*240
. . . . . . g.39185
gtcttttagcctgcccttgcatggcgcctgctggaggaggagagagctctgctggcatga c.*300
. . . . . . g.39245
gccacagtttcttgactggaggccatcaaccctcttggttgaggccttgttctgagccct c.*360
. . . . . . g.39305
gacatgtgcttgggcactggtgggcctgggcttctgaggtggcctcctgccctgatcagg c.*420
. . . . . . g.39365
gaccctccccgctttcctgggcctctcagttgaacaaagcagcaaaacaaaggcagtttt c.*480
. . . . . . g.39425
atatgaaagattagaagcctggaataatcaggctttttaaatgatgtaattcccactgta c.*540
. . . . . . g.39485
atagcatagggattttggaagcagctgctggtggcttgggacatcagtggggccaagggt c.*600
. . . . . . g.39545
tctctgtccctggttcaactgtgatttggctttcccgtgtctttcctggtgatgccttgt c.*660
. . . . . . g.39605
ttggggttctgtgggtttgggtgggaagagggccatctgcctgaatgtaacctgctagct c.*720
. . . . . . g.39665
ctccgaaggccctgcgggcctggcttgtgtgagcgtgtggacagtggtggccgcgctgtg c.*780
. . . . . . g.39725
cctgctcgtgttgcctacatgtccctggctgttgaggcgctgcttcagcctgcacccctc c.*840
. . . . . . g.39785
ccttgtctcatagatgctccttttgaccttttcaaataaatatggatggcgagctcctag c.*900
. . . . . . g.39845
gcctctggcttcctggtagagggcggcatgccgaagggtctgctgggtgtggattggatg c.*960
. . . . . . g.39905
ctggggtgtgggggttggaagctgtctgtggcccacttgggcacccacgcttctgtccac c.*1020
. . . . . . g.39965
ttctggttgccaggagacagcaagcaaagccagcaggacatgaagttgctattaaatgga c.*1080
. . . . . . g.40025
cttcgtgatttttgttttgcactaaagtttctgtgatttaacaataaaattctgttagcc c.*1140
g.40028
aga c.*1143
(downstream sequence)
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