(used for variant description)
(last modified November 3, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_031220.3 in the PITPNM3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016020.1, covering PITPNM3 transcript NM_031220.3.
(upstream sequence)
. . . g.5031
gcggcggcggctgcggtggcggcagccgagg c.-121
. . . . . . g.5091
cgagcggggcgggggcgcgggcgcggcgctcggagtccgttcggggccggaggcggtcgg c.-61
. . . . . . g.5151
ggccgggcccgggaagcgcgaggagcgcgcgtagcgccgccggagcccgccgcccgggac c.-1
. . | 02 . . . . g.23513
ATGGCCAAGGCGGGCCGTGCAG | GTGGTCCTCCCCCGGGCGGCGGTGCCCCCTGGCACCTT c.60
M A K A G R A G | G P P P G G G A P W H L p.20
. . . . . | 03 g.36096
CGAAATGTCCTCAGTGACTCTGTGGAGAGCTCAGATGATGAATTCTTTGATGCCAGAG | AG c.120
R N V L S D S V E S S D D E F F D A R E | p.40
. . . . . . g.36156
GAGATGGCTGAAGGGAAGAATGCCATCCTCATTGGGATGAGCCAGTGGAACTCCAATGAC c.180
E M A E G K N A I L I G M S Q W N S N D p.60
. . . . | 04 . . g.57997
CTCGTGGAGCAGATCGAGACCATGGGGAAACTGGACGAGCATCAAG | GAGAAGGGACCGCG c.240
L V E Q I E T M G K L D E H Q G | E G T A p.80
. . . | 05 . . . g.77291
CCGTGCACATCCAGCATCCTCCAGGAGAAGCAGC | GAGAACTGTACCGGGTTTCCTTGAGA c.300
P C T S S I L Q E K Q R | E L Y R V S L R p.100
. . . . . | 06 . g.77814
AGACAGAGGTTCCCAGCCCAGGGAAGCATCGAGATCCACGAAGACAGCGAG | GAAGGCTGC c.360
R Q R F P A Q G S I E I H E D S E | E G C p.120
. . . . . . g.77874
CCGCAGCGCTCCTGCAAGACACATGTCCTCCTGCTGGTCCTGCATGGGGGAAACATCCTG c.420
P Q R S C K T H V L L L V L H G G N I L p.140
. . . . . . g.77934
GACACGGGTGCCGGGGACCCGTCCTGCAAGGCAGCCGACATCCACACCTTCAGCTCCGTG c.480
D T G A G D P S C K A A D I H T F S S V p.160
. . . . . . g.77994
CTGGAGAAGGTCACACGAGCCCATTTCCCTGCTGCCCTGGGCCACATCCTCATCAAGTTC c.540
L E K V T R A H F P A A L G H I L I K F p.180
. . . . | 07. . g.82834
GTCCCCTGTCCTGCCATCTGCTCTGAGGCTTTCTCGCTTGTCTCTCA | CCTGAACCCCTAC c.600
V P C P A I C S E A F S L V S H | L N P Y p.200
. . . . . . g.82894
AGCCACGATGAGGGCTGCCTCAGCAGCAGCCAGGACCACGTCCCTCTGGCCGCCCTTCCC c.660
S H D E G C L S S S Q D H V P L A A L P p.220
. . . . . . g.82954
CTGTTGGCCATCTCCTCCCCGCAGTACCAGGATGCTGTCGCCACCGTCATCGAGCGAGCC c.720
L L A I S S P Q Y Q D A V A T V I E R A p.240
. . . . . | 08. g.83463
AACCAGGTCTACAGAGAGTTCCTGAAGTCCTCTGATGGGATTGGCTTCAGTGGGCAG | GTG c.780
N Q V Y R E F L K S S D G I G F S G Q | V p.260
. . . . . . g.83523
TGTCTCATCGGGGACTGTGTGGGGGGCCTCCTGGCCTTCGATGCCATCTGCTACAGTGCG c.840
C L I G D C V G G L L A F D A I C Y S A p.280
. . . . . . g.83583
GGGCCCTCAGGGGACAGCCCTGCCAGCAGCAGCCGGAAGGGGAGCATCAGCAGCACCCAG c.900
G P S G D S P A S S S R K G S I S S T Q p.300
| 09 . . . . . . g.84404
| GACACCCCAGTCGCGGTGGAGGAAGATTGCAGCCTGGCCAGCAGCAAGCGTCTCAGCAAA c.960
| D T P V A V E E D C S L A S S K R L S K p.320
. . . . . . g.84464
AGCAACATTGACATCTCCAGTGGGTTGGAGGATGAGGAGCCCAAGAGGCCGTTGCCGCGG c.1020
S N I D I S S G L E D E E P K R P L P R p.340
. . . . . . g.84524
AAACAGAGCGACTCCTCCACCTATGACTGCGAGGCCATCACCCAGCACCATGCCTTCCTC c.1080
K Q S D S S T Y D C E A I T Q H H A F L p.360
| 10 . . . . . . g.87008
TCAAG | CATCCACTCCAGCGTGCTAAAGGATGAGTCTGAGACCCCGGCGGCTGGGGGGCCG c.1140
S S | I H S S V L K D E S E T P A A G G P p.380
. . . . . . g.87068
CAGCTCCCTGAGGTCAGCCTGGGCCGCTTTGACTTCGATGTGTCCGACTTCTTCCTCTTC c.1200
Q L P E V S L G R F D F D V S D F F L F p.400
. . . . . | 11 g.88732
GGCTCGCCACTGGGCCTGGTCCTGGCCATGCGGAGGACGGTGCTGCCTGGGCTGGACG | GC c.1260
G S P L G L V L A M R R T V L P G L D G | p.420
. . . . . . g.88792
TTCCAGGTGCGTCCTGCCTGCAGCCAGGTCTACAGCTTCTTCCATTGCGCAGACCCCTCT c.1320
F Q V R P A C S Q V Y S F F H C A D P S p.440
. . . . . . g.88852
GCCTCACGGCTCGAGCCACTGCTGGAGCCCAAGTTCCACCTGGTGCCGCCTGTCAGCGTG c.1380
A S R L E P L L E P K F H L V P P V S V p.460
. . . . | 12 . g.90213
CCTCGCTACCAGAGGTTCCCACTGGGCGATGGGCAGTCCCTCCTCCTCG | CTGATGCCCTA c.1440
P R Y Q R F P L G D G Q S L L L A | D A L p.480
. . . . . . g.90273
CACACCCACAGCCCCCTCTTCCTGGAGGGCAGCTCCCGGGACAGCCCGCCACTTCTGGAT c.1500
H T H S P L F L E G S S R D S P P L L D p.500
. . . . . . g.90333
GCCCCTGCCTCGCCCCCTCAGGCCTCGAGGTTCCAGCGCCCAGGACGGAGGATGAGCGAG c.1560
A P A S P P Q A S R F Q R P G R R M S E p.520
. . . . . . g.90393
GGGAGCTCCCACAGCGAGAGCTCGGAGTCCTCGGACAGCATGGCACCCGTGGGTGCCTCC c.1620
G S S H S E S S E S S D S M A P V G A S p.540
| 13 . . . . . . g.91205
CGCA | TCACAGCCAAGTGGTGGGGAAGCAAGAGGATCGACTATGCCCTGTACTGCCCTGAT c.1680
R I | T A K W W G S K R I D Y A L Y C P D p.560
. . . . . . g.91265
GTCCTCACGGCCTTCCCCACCGTGGCCCTGCCCCACCTCTTCCACGCCAGTTACTGGGAG c.1740
V L T A F P T V A L P H L F H A S Y W E p.580
. . . | 14 . . . g.93243
TCCACAGACGTGGTGGCCTTCATCCTGAGACAG | GTAATGCGCTATGAGAGCGTGAACATC c.1800
S T D V V A F I L R Q | V M R Y E S V N I p.600
. . . . . . g.93303
AAGGAAAGCGCCCGCCTGGACCCTGCAGCACTGAGTCCTGCCAACCCCCGGGAGAAGTGG c.1860
K E S A R L D P A A L S P A N P R E K W p.620
. . . | 15 . . . g.96816
CTTCGTAAGCGGACTCAGGTCAAGCTGAGG | AATGTCACGGCTAATCACCGGGCCAATGAT c.1920
L R K R T Q V K L R | N V T A N H R A N D p.640
. . . . . . g.96876
GTGATTGCTGCTGAAGATGGCCCCCAGGTCCTGGTGGGGCGGTTCATGTACGGGCCCCTC c.1980
V I A A E D G P Q V L V G R F M Y G P L p.660
. . | 16. . . . g.97272
GACATGGTGGCTCTGACTGGAGAGAAG | GTGGACATCCTAGTAATGGCAGAGCCATCCTCA c.2040
D M V A L T G E K | V D I L V M A E P S S p.680
. . . . . . g.97332
GGCCGCTGGGTACACCTGGACACAGAGATCACCAACAGCAGTGGTCGCATCACATACAAT c.2100
G R W V H L D T E I T N S S G R I T Y N p.700
. . . . . | 17 . g.97680
GTGCCGCGGCCCCGGCGCCTGGGGGTTGGTGTCTATCCTGTGAAGATGGTCGTCAG | GGGC c.2160
V P R P R R L G V G V Y P V K M V V R | G p.720
. . . . . . g.97740
GACCAGACCTGTGCCATGAGCTACCTCACGGTGTTGCCCAGGGGCATGGAGTGTGTAGTG c.2220
D Q T C A M S Y L T V L P R G M E C V V p.740
. . . . . . g.97800
TTCAGCATTGATGGGTCCTTCGCGGCCAGCGTGTCTATCATGGGAAGCGACCCCAAGGTC c.2280
F S I D G S F A A S V S I M G S D P K V p.760
. . | 18 . . . . g.100035
CGGCCGGGTGCAGTGGATGTTGTCCG | GCACTGGCAGGACTTGGGCTACATGATCCTTTAC c.2340
R P G A V D V V R | H W Q D L G Y M I L Y p.780
. . . . . . g.100095
ATCACGGGACGGCCGGACATGCAGAAGCAGCGGGTGGTGTCGTGGCTGTCCCAGCACAAC c.2400
I T G R P D M Q K Q R V V S W L S Q H N p.800
. . . . . . g.100155
TTCCCACAGGGCATGATCTTCTTCTCCGATGGGCTGGTGCATGACCCGCTGCGGCAGAAG c.2460
F P Q G M I F F S D G L V H D P L R Q K p.820
. . . | 19 . . . g.103865
GCCATCTTCCTGCGCAACCTCATGCAGGAG | TGCTTCATCAAAATCAGTGCGGCCTATGGC c.2520
A I F L R N L M Q E | C F I K I S A A Y G p.840
. . . . . . g.103925
TCCACGAAGGACATCTCTGTCTACAGCGTGCTGGGCCTGCCTGCCTCCCAGATCTTCATT c.2580
S T K D I S V Y S V L G L P A S Q I F I p.860
. . . | 20 . . g.105935
GTGGGCCGGCCCACCAAGAAGTACCAAACCCAGTGCCAG | TTCCTGAGCGAGGGCTACGCC c.2640
V G R P T K K Y Q T Q C Q | F L S E G Y A p.880
. . . . . . g.105995
GCACACCTGGCCGCGCTGGAGGCCAGCCACCGCTCACGCCCAAAGAAGAACAACTCGCGC c.2700
A H L A A L E A S H R S R P K K N N S R p.900
. . . . . . g.106055
ATGATCCTGCGCAAGGGCAGCTTCGGGCTGCACGCGCAGCCAGAGTTCCTGCGGAAGCGC c.2760
M I L R K G S F G L H A Q P E F L R K R p.920
. . . . . . g.106115
AACCACCTGCGCAGAACCATGTCAGTGCAGCAGCCCGACCCGCCCGCCGCCAACCCCAAG c.2820
N H L R R T M S V Q Q P D P P A A N P K p.940
. . . . . . g.106175
CCCGAGCGGGCCCAGAGCCAGCCCGAGTCGGACAAAGACCACGAGCGGCCGCTGCCGGCG c.2880
P E R A Q S Q P E S D K D H E R P L P A p.960
. . . . g.106220
CTCAGCTGGGCGCGTGGGCCCCCCAAGTTCGAGTCGGTGCCCTGA c.2925
L S W A R G P P K F E S V P X p.974
. . . . . . g.106280
ggggtgggctgtgctcagagcagggagcggggggcccaatcaggctgcctgcggggacgg c.*60
. . . . . . g.106340
gagggggctgccctctccccgacacaggcgttttcctgctttttccctcccgtgtctgtc c.*120
. . . . . . g.106400
cagcagtgtccgaccagagcggggagggatcctgcccgagcccggggggctccctgagct c.*180
. . . . . . g.106460
gcgacggggtgaggtccggggatctcggtgcagccactgctgcctcccacgggcctgcga c.*240
. . . . . . g.106520
ccgcaagcccaagtcagggttcatgtttgtgtcatcctgggggcaggcttgcccggggct c.*300
. . . . . . g.106580
gaagcgtttgggcaaagtcgaccaccctcctgcgtccccaggcttcacagcgagctaggc c.*360
. . . . . . g.106640
aggccctcaagggggcagccccagcctcggcaccaagcgccgctggcaggcacagcctct c.*420
. . . . . . g.106700
gggctgtcttgtggaggtgtgagtggcatttgtgcccgcccttcctgtggtttgggtcac c.*480
. . . . . . g.106760
cattttggggttggcgctcttatggcaagatggccactttctgggagtgagagcacatcc c.*540
. . . . . . g.106820
ccgggctcatgttacgccgtctctgtccacagccctcgggggtggggtctggtgctgacg c.*600
. . . . . . g.106880
gtctgtcctgcagctgtccattgtccccaacccccgttgtcctcagtgtcctcaccattt c.*660
. . . . . . g.106940
ccctgtggccctggaggccagggcttcctcttcccggagccctgcctcatgccctccctt c.*720
. . . . . . g.107000
gggaggctgcagccttgggctctggctcagctgggctggctgtgagcccctgagctggtt c.*780
. . . . . . g.107060
gcttgccctctctgggctccgtcttccttctgttattggaggggtccccctagctgagat c.*840
. . . . . . g.107120
tggtgtgagtctttgactcccaagatgtcctgcagtttggcccattgaggctcttcaggc c.*900
. . . . . . g.107180
ctaagggtccctccgagtgtcctgtgacccacacctttcacacagcctgggagagggggt c.*960
. . . . . . g.107240
ctgggtgggctggaaaggaggggctcttaaaggagcctctctgggtgggctgggaaggga c.*1020
. . . . . . g.107300
tccctactccacggagaggtgcagctggtttgccttgcactgcgtgtcccagggacaacc c.*1080
. . . . . . g.107360
cactcaaactgggtgtcctagggacaacccacctccctctcctgccaaaaggttactgat c.*1140
. . . . . . g.107420
tgggctccccataaccccagctctgccaggacccttttatcctttttggctcccagaggc c.*1200
. . . . . . g.107480
atagagctgagattccagggttctaggggttcctggaagtttggctccaactgttgtatt c.*1260
. . . . . . g.107540
ctcttccctttcccctgctgctcagtttgtgcccataacctcctcctgggtagtcccctg c.*1320
. . . . . . g.107600
aggttggcaggacttggcccttctggggcccctaaagcctgctcaggccctcctgctgct c.*1380
. . . . . . g.107660
gaaccttggcctgggcactgctttcctgcatcctggaaaaccccgactccctggcccagg c.*1440
. . . . . . g.107720
cccacacctgctgtgtggggctgcccacgtggccactgagcccccataggctgccatcaa c.*1500
. . . . . . g.107780
ggccggtcccagcaatttcagccaggctgccccagggcccagacgtctgtatacacagca c.*1560
. . . . . . g.107840
ggcacctgtgtcagctcagtgtcgcttctgctcaatgtctacctctcgcggctcccatgc c.*1620
. . . . . . g.107900
agccagtgacgctgctggtgggggcggctggcaccgccgttgtgaattgcctggcaaatt c.*1680
. . . . . . g.107960
gggtgccctcctggggctggaggggtctgggctcctaacccccatccctgctctccccac c.*1740
. . . . . . g.108020
tagaaatgtgtcttcagtctgccagctcttctgctctacttccagtgctgcatcctgcac c.*1800
. . . . . . g.108080
tcaagcccagggctgctggcgagtctatggggaggagtgcggatcaggctcagcctcagc c.*1860
. . . . . . g.108140
ctcagcctcagcctcctctatggtcctgtctcctggcggttcacaggtgcccatcccccc c.*1920
. . . . . . g.108200
tttaacatttcacagttcttggctttccaaaggcaccagctcatatggcatagccacccc c.*1980
. . . . . . g.108260
aaccctaatccttcccccaaatatcctgatttaaacttgggcagacttagtctgattctt c.*2040
. . . . . . g.108320
gaaaactctaccatctccttcttgcagaaggcactggttacactaaaatgataaaataat c.*2100
. . . . . . g.108380
tagtatggggtactttgctcccagttacattccctcttccctgagaaccccaggctaggc c.*2160
. . . . . . g.108440
gagagagggagagggagagagaaagagagagagggagagagagagagagagagggagaga c.*2220
. . . . . . g.108500
gaaagagagagagaaagaaaggaagacagaggaaagaaaggaagacagagagaggaaggc c.*2280
. . . . . . g.108560
agagagagagagggagaaagaaagacaggaaggcagagagagagagagagagagaaagga c.*2340
. . . . . . g.108620
agacagagagagagagagaggaagagagagagagagaggaagagagagagagagctcatg c.*2400
. . . . . . g.108680
agccaggatccctggggaatttgaagtcagtgtgaccagggttctgtggctctggggtca c.*2460
. . . . . . g.108740
gagctgggacacaggacccagcaggagggccaccaccccttccttttggaaacagctctg c.*2520
. . . . . . g.108800
gttccaagcagcaatcaggtaggaggatcggggctttggctgatgatgcacacacaagat c.*2580
. . . . . . g.108860
gctgatggtgtacggtgagatattgtgaacgcaacaactggagctgtagttggcgtgtgt c.*2640
. . . . . . g.108920
gagtgtgtacctgcggttctgtttagtggcgagacaaggtatgtttcagtactgctttca c.*2700
. . . . . . g.108980
cggcaactgtgtaatgcatatgctctttctacactagcggtttgctcagttttgtctgtc c.*2760
. . . . . . g.109040
cggttaagttggagaaagaaccaagttgtgttgttctctggagggggtgctgctgcctct c.*2820
. . . . . . g.109100
ccttgagtagttctgtgacccccaatccagctgttttgtagagaatccttctagcttctg c.*2880
. . . . . . g.109160
gtatgcctgctctccagcagctggaaacagatcttcctgcctgaccaaagctccttgttt c.*2940
. . . . . . g.109220
cttgcgtggcatgtttgttcttcccgatccggtggctgtcgtagccgagggcctgcctgc c.*3000
. . . . . . g.109280
caccttcctttatcatttgccctgttggggttcagggtgcatccttagcccaggacctgc c.*3060
. . . . . . g.109340
tcttccagcatcatgggttttttcctaaagatctcaacggctcccttgggctccataaaa c.*3120
. . . . . . g.109400
tatttcttttttaaaaaagcagactcctttcatgcattgggatgaacggccctcttgtct c.*3180
. . . . . . g.109460
gggtgctgggctacagcaaacaaatgtgtttgaatcccagtattccagagattcctggcg c.*3240
. . . . . . g.109520
gtgggctgtctagaagaggcgaggctggatctcacggtttttaaactgtatttttacccc c.*3300
. . . . . . g.109580
tttgggacccatacctgtgccctggagtctttcatgaggcacgtgggtcctctgcatcct c.*3360
. . . . . . g.109640
cactctcccccctagcccaggtgcagccccgggaggggtgccctgaccccgccttaaaca c.*3420
. . . . . . g.109700
accaactttcccaccgaatcccatcggcgggcggggggggggggtttgggtgccaagtgc c.*3480
. . . . . . g.109760
cctggaaacctattgtcttttggctcagccaaaagaaacattccctccttcctttccttc c.*3540
. . . . . . g.109820
cgggcttgggggaaaccttcgtaaaaatcatagttagggttaagtccaagcagtgaggcc c.*3600
. . . . . . g.109880
tgacctgggctctgctctccttgttgagacactaacaggcagttgggaggaaaatctgca c.*3660
. . . . . . g.109940
tttgactccaccctctttggggcaaaggagaaacaggtgacccgagggggggcaggccag c.*3720
. . . . . . g.110000
aggagggcgactcgtgcacagggacccccacccttggaccccgctgtccttttctagttg c.*3780
. . . . . . g.110060
tttacttggtggtggcagccagtctgaccttgtctgtggtctgactgttcctaagtgtgt c.*3840
. . . . . . g.110120
aactttcagtattatctgtgacagatggttctgtggtgaaaaaggtttattatattcctt c.*3900
. . . . . . g.110180
atggctgccttgtacaaaatccgttagaaacgctaatgtaagatatcagatttctaacaa c.*3960
. . . . . . g.110240
gacaaaaacagcattatggagttaaaagatttttacaactgggtcttgattttgatgtga c.*4020
. . . . . g.110295
gctggtttttagctctcaaatgttgtcacttaaataaaaaccttctttgccttta c.*4075
(downstream sequence)
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