(used for variant description)
(last modified August 22, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000534.4 in the PMS1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008648.1, covering PMS1 transcript NM_000534.4.
(upstream sequence)
. . . . g.5049
ggcaagacaacgaggatttgcgtagggggcgagcctctgaggccacttg c.-481
. . . . . . g.5109
gctcttacggccacgcagggcgccgcagatgcagccggagcccgcttttccctctcagga c.-421
. . . . . . g.5169
cgacccctaggccgccagcagttccctaccgacgaaggcgactgtacagcgtccaccgcg c.-361
. . . . . . g.5229
ttcgtgcccacttacccgccgccccactccgggccgccggctcgcagcaggaccagcccg c.-301
. . . . . . g.5289
gctgctacggccgcggatacacgccctcaggcccggcgctgcgcagcttgcggaagcttt c.-241
. . . . . . g.5349
cccggacagactcgctgccagcggattggctgcgagcagcgccaatctcacgttgccccc c.-181
. . . . . . g.5409
gggcgaggcgggactcagtgccgcgctctctgcacccgctctgccgcgcgcgtgcgtgct c.-121
. . . . . . g.5469
gggtgcgggtgcgggtgcggggttgggcctgcgcatcgggtgagacgctggctgcttgcg c.-61
. . . . | 02 . g.12725
gctagtggatggtaattgcctgcctcgcgctagcaggaag | ctgctctgttaaaagcgaaa c.-1
. . . . . . g.12785
ATGAAACAATTGCCTGCGGCAACAGTTCGACTCCTTTCAAGTTCTCAGATCATCACTTCG c.60
M K Q L P A A T V R L L S S S Q I I T S p.20
. . . . . . g.12845
GTGGTCAGTGTTGTAAAAGAGCTTATTGAAAACTCCTTGGATGCTGGTGCCACAAGCGTA c.120
V V S V V K E L I E N S L D A G A T S V p.40
. | 03 . . . . . g.16732
GATGTTAAACTG | GAGAACTATGGATTTGATAAAATTGAGGTGCGAGATAACGGGGAGGGT c.180
D V K L | E N Y G F D K I E V R D N G E G p.60
. . . . . . g.16792
ATCAAGGCTGTTGATGCACCTGTAATGGCAATGAAGTACTACACCTCAAAAATAAATAGT c.240
I K A V D A P V M A M K Y Y T S K I N S p.80
. . . . . . g.16852
CATGAAGATCTTGAAAATTTGACAACTTACGGTTTTCGTGGAGAAGCCTTGGGGTCAATT c.300
H E D L E N L T T Y G F R G E A L G S I p.100
. | 04 . . . . . g.26612
TGTTGTATAGCTGAG | GTTTTAATTACAACAAGAACGGCTGCTGATAATTTTAGCACCCAG c.360
C C I A E | V L I T T R T A A D N F S T Q p.120
. . . . . | 05 g.38934
TATGTTTTAGATGGCAGTGGCCACATACTTTCTCAGAAACCTTCACATCTTGGTCAAG | GT c.420
Y V L D G S G H I L S Q K P S H L G Q G | p.140
. . . . . . g.38994
ACAACTGTAACTGCTTTAAGATTATTTAAGAATCTACCTGTAAGAAAGCAGTTTTACTCA c.480
T T V T A L R L F K N L P V R K Q F Y S p.160
. . . . . . g.39054
ACTGCAAAAAAATGTAAAGATGAAATAAAAAAGATCCAAGATCTCCTCATGAGCTTTGGT c.540
T A K K C K D E I K K I Q D L L M S F G p.180
. . . . | 06 . . g.64897
ATCCTTAAACCTGACTTAAGGATTGTCTTTGTACATAACAAG | GCAGTTATTTGGCAGAAA c.600
I L K P D L R I V F V H N K | A V I W Q K p.200
. . . . . . g.64957
AGCAGAGTATCAGATCACAAGATGGCTCTCATGTCAGTTCTGGGGACTGCTGTTATGAAC c.660
S R V S D H K M A L M S V L G T A V M N p.220
. . . | 07 . . g.73591
AATATGGAATCCTTTCAGTACCACTCTGAAGAATCTCAG | ATTTATCTCAGTGGATTTCTT c.720
N M E S F Q Y H S E E S Q | I Y L S G F L p.240
. . . . . . g.73651
CCAAAGTGTGATGCAGACCACTCTTTCACTAGTCTTTCAACACCAGAAAGAAGTTTCATC c.780
P K C D A D H S F T S L S T P E R S F I p.260
. . . . | 08 . . g.74872
TTCATAAACAGTCGACCAGTACATCAAAAAGATATCTTAAAG | TTAATCCGACATCATTAC c.840
F I N S R P V H Q K D I L K | L I R H H Y p.280
. . . . . . g.74932
AATCTGAAATGCCTAAAGGAATCTACTCGTTTGTATCCTGTTTTCTTTCTGAAAATCGAT c.900
N L K C L K E S T R L Y P V F F L K I D p.300
. . . . . . g.74992
GTTCCTACAGCTGATGTTGATGTAAATTTAACACCAGATAAAAGCCAAGTATTATTACAA c.960
V P T A D V D V N L T P D K S Q V L L Q p.320
| 09 . . . . . . g.75208
AATAAG | GAATCTGTTTTAATTGCTCTTGAAAATCTGATGACGACTTGTTATGGACCATTA c.1020
N K | E S V L I A L E N L M T T C Y G P L p.340
. . . . . . g.75268
CCTAGTACAAATTCTTATGAAAATAATAAAACAGATGTTTCCGCAGCTGACATCGTTCTT c.1080
P S T N S Y E N N K T D V S A A D I V L p.360
. . . . . . g.75328
AGTAAAACAGCAGAAACAGATGTGCTTTTTAATAAAGTGGAATCATCTGGAAAGAATTAT c.1140
S K T A E T D V L F N K V E S S G K N Y p.380
. . . . . . g.75388
TCAAATGTTGATACTTCAGTCATTCCATTCCAAAATGATATGCATAATGATGAATCTGGA c.1200
S N V D T S V I P F Q N D M H N D E S G p.400
. . . . . . g.75448
AAAAACACTGATGATTGTTTAAATCACCAGATAAGTATTGGTGACTTTGGTTATGGTCAT c.1260
K N T D D C L N H Q I S I G D F G Y G H p.420
. . . . . . g.75508
TGTAGTAGTGAAATTTCTAACATTGATAAAAACACTAAGAATGCATTTCAGGACATTTCA c.1320
C S S E I S N I D K N T K N A F Q D I S p.440
. . . . . . g.75568
ATGAGTAATGTATCATGGGAGAACTCTCAGACGGAATATAGTAAAACTTGTTTTATAAGT c.1380
M S N V S W E N S Q T E Y S K T C F I S p.460
. . . . . . g.75628
TCCGTTAAGCACACCCAGTCAGAAAATGGCAATAAAGACCATATAGATGAGAGTGGGGAA c.1440
S V K H T Q S E N G N K D H I D E S G E p.480
. . . . . . g.75688
AATGAGGAAGAAGCAGGTCTTGAAAACTCTTCGGAAATTTCTGCAGATGAGTGGAGCAGG c.1500
N E E E A G L E N S S E I S A D E W S R p.500
. . . . . . g.75748
GGAAATATACTTAAAAATTCAGTGGGAGAGAATATTGAACCTGTGAAAATTTTAGTGCCT c.1560
G N I L K N S V G E N I E P V K I L V P p.520
. . . . . . g.75808
GAAAAAAGTTTACCATGTAAAGTAAGTAATAATAATTATCCAATCCCTGAACAAATGAAT c.1620
E K S L P C K V S N N N Y P I P E Q M N p.540
. . . . . . g.75868
CTTAATGAAGATTCATGTAACAAAAAATCAAATGTAATAGATAATAAATCTGGAAAAGTT c.1680
L N E D S C N K K S N V I D N K S G K V p.560
. . . . . . g.75928
ACAGCTTATGATTTACTTAGCAATCGAGTAATCAAGAAACCCATGTCAGCAAGTGCTCTT c.1740
T A Y D L L S N R V I K K P M S A S A L p.580
. . . . . . g.75988
TTTGTTCAAGATCATCGTCCTCAGTTTCTCATAGAAAATCCTAAGACTAGTTTAGAGGAT c.1800
F V Q D H R P Q F L I E N P K T S L E D p.600
. . . . . | 10 . g.84662
GCAACACTACAAATTGAAGAACTGTGGAAGACATTGAGTGAAGAGGAAAAACTGAA | ATAT c.1860
A T L Q I E E L W K T L S E E E K L K | Y p.620
. . . . . . g.84722
GAAGAGAAGGCTACTAAAGACTTGGAACGATACAATAGTCAAATGAAGAGAGCCATTGAA c.1920
E E K A T K D L E R Y N S Q M K R A I E p.640
. . . . . . g.84782
CAGGAGTCACAAATGTCACTAAAAGATGGCAGAAAAAAGATAAAACCCACCAGCGCATGG c.1980
Q E S Q M S L K D G R K K I K P T S A W p.660
. . . . . . g.84842
AATTTGGCCCAGAAGCACAAGTTAAAAACCTCATTATCTAATCAACCAAAACTTGATGAA c.2040
N L A Q K H K L K T S L S N Q P K L D E p.680
. . . . . . g.84902
CTCCTTCAGTCCCAAATTGAAAAAAGAAGGAGTCAAAATATTAAAATGGTACAGATCCCC c.2100
L L Q S Q I E K R R S Q N I K M V Q I P p.700
. . . . . . g.84962
TTTTCTATGAAAAACTTAAAAATAAATTTTAAGAAACAAAACAAAGTTGACTTAGAAGAG c.2160
F S M K N L K I N F K K Q N K V D L E E p.720
. . . . . . g.85022
AAGGATGAACCTTGCTTGATCCACAATCTCAGGTTTCCTGATGCATGGCTAATGACATCC c.2220
K D E P C L I H N L R F P D A W L M T S p.740
. . . . . . g.85082
AAAACAGAGGTAATGTTATTAAATCCATATAGAGTAGAAGAAGCCCTGCTATTTAAAAGA c.2280
K T E V M L L N P Y R V E E A L L F K R p.760
. . . . . . g.85142
CTTCTTGAGAATCATAAACTTCCTGCAGAGCCACTGGAAAAGCCAATTATGTTAACAGAG c.2340
L L E N H K L P A E P L E K P I M L T E p.780
| 11 . . . . . . g.88772
AG | TCTTTTTAATGGATCTCATTATTTAGACGTTTTATATAAAATGACAGCAGATGACCAA c.2400
S | L F N G S H Y L D V L Y K M T A D D Q p.800
. . . . . . g.88832
AGATACAGTGGATCAACTTACCTGTCTGATCCTCGTCTTACAGCGAATGGTTTCAAGATA c.2460
R Y S G S T Y L S D P R L T A N G F K I p.820
. | 12 . . . . . g.94458
AAATTGATACCAG | GAGTTTCAATTACTGAAAATTACTTGGAAATAGAAGGAATGGCTAAT c.2520
K L I P G | V S I T E N Y L E I E G M A N p.840
. . . . . . g.94518
TGTCTCCCATTCTATGGAGTAGCAGATTTAAAAGAAATTCTTAATGCTATATTAAACAGA c.2580
C L P F Y G V A D L K E I L N A I L N R p.860
. . . . . | 13 . g.98193
AATGCAAAGGAAGTTTATGAATGTAGACCTCGCAAAGTGATAAGTTATTTAGAG | GGAGAA c.2640
N A K E V Y E C R P R K V I S Y L E | G E p.880
. . . . . . g.98253
GCAGTGCGTCTATCCAGACAATTACCCATGTACTTATCAAAAGAGGACATCCAAGACATT c.2700
A V R L S R Q L P M Y L S K E D I Q D I p.900
. . . . . . g.98313
ATCTACAGAATGAAGCACCAGTTTGGAAATGAAATTAAAGAGTGTGTTCATGGTCGCCCA c.2760
I Y R M K H Q F G N E I K E C V H G R P p.920
. . . g.98352
TTTTTTCATCATTTAACCTATCTTCCAGAAACTACATGA c.2799
F F H H L T Y L P E T T X p.932
. . . . . . g.98412
ttaaatatgtttaagaagattagttaccattgaaattggttctgtcataaaacagcatga c.*60
. . . . . . g.98472
gtctggttttaaattatctttgtattatgtgtcacatggttattttttaaatgaggattc c.*120
. . . . . . g.98532
actgacttgtttttatattgaaaaaagttccacgtattgtagaaaacgtaaataaactaa c.*180
. g.98545
tatagactattca c.*193
(downstream sequence)
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