(used for variant description)
(last modified August 22, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000535.5 in the PMS2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008466.1, covering PMS2 transcript NM_000535.5.
(upstream sequence)
. . g.5027
agccaatgggagttcaggaggcggagc c.-61
. . . . . . g.5087
gcctgtgggagccctggagggaactttcccagtccccgaggcggatcgggtgttgcatcc c.-1
. . | 02 . . . . g.8112
ATGGAGCGAGCTGAGAGCTCGAG | TACAGAACCTGCTAAGGCCATCAAACCTATTGATCGG c.60
M E R A E S S S | T E P A K A I K P I D R p.20
. . . . . . g.8172
AAGTCAGTCCATCAGATTTGCTCTGGGCAGGTGGTACTGAGTCTAAGCACTGCGGTAAAG c.120
K S V H Q I C S G Q V V L S L S T A V K p.40
. . . . | 03 . . g.10065
GAGTTAGTAGAAAACAGTCTGGATGCTGGTGCCACTAATATTG | ATCTAAAGCTTAAGGAC c.180
E L V E N S L D A G A T N I D | L K L K D p.60
. . . . . . g.10125
TATGGAGTGGATCTTATTGAAGTTTCAGACAATGGATGTGGGGTAGAAGAAGAAAACTTC c.240
Y G V D L I E V S D N G C G V E E E N F p.80
. | 04 . . . . . g.10364
GAAGGCTTAA | CTCTGAAACATCACACATCTAAGATTCAAGAGTTTGCCGACCTAACTCAG c.300
E G L T | L K H H T S K I Q E F A D L T Q p.100
. . . . . | 05 . g.11477
GTTGAAACTTTTGGCTTTCGGGGGGAAGCTCTGAGCTCACTTTGTGCACTGAG | CGATGTC c.360
V E T F G F R G E A L S S L C A L S | D V p.120
. . . . . . g.11537
ACCATTTCTACCTGCCACGCATCGGCGAAGGTTGGAACTCGACTGATGTTTGATCACAAT c.420
T I S T C H A S A K V G T R L M F D H N p.140
. . . . . . g.11597
GGGAAAATTATCCAGAAAACCCCCTACCCCCGCCCCAGAGGGACCACAGTCAGCGTGCAG c.480
G K I I Q K T P Y P R P R G T T V S V Q p.160
. . . . . | 06. g.14834
CAGTTATTTTCCACACTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAG | GAG c.540
Q L F S T L P V R H K E F Q R N I K K | E p.180
. . . . . . g.14894
TATGCCAAAATGGTCCAGGTCTTACATGCATACTGTATCATTTCAGCAGGCATCCGTGTA c.600
Y A K M V Q V L H A Y C I I S A G I R V p.200
. . . . . . g.14954
AGTTGCACCAATCAGCTTGGACAAGGAAAACGACAGCCTGTGGTATGCACAGGTGGAAGC c.660
S C T N Q L G Q G K R Q P V V C T G G S p.220
. . . . | 07 . . g.16698
CCCAGCATAAAGGAAAATATCGGCTCTGTGTTTGGGCAGAAGCAG | TTGCAAAGCCTCATT c.720
P S I K E N I G S V F G Q K Q | L Q S L I p.240
. . . . . . g.16758
CCTTTTGTTCAGCTGCCCCCTAGTGACTCCGTGTGTGAAGAGTACGGTTTGAGCTGTTCC c.780
P F V Q L P P S D S V C E E Y G L S C S p.260
. . | 08 . . . . g.18510
GATGCTCTGCATAATCTTTTTTA | CATCTCAGGTTTCATTTCACAATGCACGCATGGAGTT c.840
D A L H N L F Y | I S G F I S Q C T H G V p.280
. . . . . . g.18570
GGAAGGAGTTCAACAGACAGACAGTTTTTCTTTATCAACCGGCGGCCTTGTGACCCAGCA c.900
G R S S T D R Q F F F I N R R P C D P A p.300
| 09 . . . . . . g.22106
AAG | GTCTGCAGACTCGTGAATGAGGTCTACCACATGTATAATCGACACCAGTATCCATTT c.960
K | V C R L V N E V Y H M Y N R H Q Y P F p.320
. . | 10 . . . g.24183
GTTGTTCTTAACATTTCTGTTGATTCAG | AATGCGTTGATATCAATGTTACTCCAGATAAA c.1020
V V L N I S V D S E | C V D I N V T P D K p.340
. . . . . . g.24243
AGGCAAATTTTGCTACAAGAGGAAAAGCTTTTGTTGGCAGTTTTAAAGACCTCTTTGATA c.1080
R Q I L L Q E E K L L L A V L K T S L I p.360
. . . . . . g.24303
GGAATGTTTGATAGTGATGTCAACAAGCTAAATGTCAGTCAGCAGCCACTGCTGGATGTT c.1140
G M F D S D V N K L N V S Q Q P L L D V p.380
| 11 . . . . . . g.26542
GAAG | GTAACTTAATAAAAATGCATGCAGCGGATTTGGAAAAGCCCATGGTAGAAAAGCAG c.1200
E G | N L I K M H A A D L E K P M V E K Q p.400
. . . . . . g.26602
GATCAATCCCCTTCATTAAGGACTGGAGAAGAAAAAAAAGACGTGTCCATTTCCAGACTG c.1260
D Q S P S L R T G E E K K D V S I S R L p.420
. . . . . . g.26662
CGAGAGGCCTTTTCTCTTCGTCACACAACAGAGAACAAGCCTCACAGCCCAAAGACTCCA c.1320
R E A F S L R H T T E N K P H S P K T P p.440
. . . . . . g.26722
GAACCAAGAAGGAGCCCTCTAGGACAGAAAAGGGGTATGCTGTCTTCTAGCACTTCAGGT c.1380
E P R R S P L G Q K R G M L S S S T S G p.460
. . . . . . g.26782
GCCATCTCTGACAAAGGCGTCCTGAGACCTCAGAAAGAGGCAGTGAGTTCCAGTCACGGA c.1440
A I S D K G V L R P Q K E A V S S S H G p.480
. . . . . . g.26842
CCCAGTGACCCTACGGACAGAGCGGAGGTGGAGAAGGACTCGGGGCACGGCAGCACTTCC c.1500
P S D P T D R A E V E K D S G H G S T S p.500
. . . . . . g.26902
GTGGATTCTGAGGGGTTCAGCATCCCAGACACGGGCAGTCACTGCAGCAGCGAGTATGCG c.1560
V D S E G F S I P D T G S H C S S E Y A p.520
. . . . . . g.26962
GCCAGCTCCCCAGGGGACAGGGGCTCGCAGGAACATGTGGACTCTCAGGAGAAAGCGCCT c.1620
A S S P G D R G S Q E H V D S Q E K A P p.540
. . . . . . g.27022
GAAACTGACGACTCTTTTTCAGATGTGGACTGCCATTCAAACCAGGAAGATACCGGATGT c.1680
E T D D S F S D V D C H S N Q E D T G C p.560
. . . . . . g.27082
AAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAA c.1740
K F R V L P Q P T N L A T P N T K R F K p.580
. . . . . . g.27142
AAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATG c.1800
K E E I L S S S D I C Q K L V N T Q D M p.600
. . . . . . g.27202
TCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTT c.1860
S A S Q V D V A V K I N K K V V P L D F p.620
. . . . . . g.27262
TCTATGAGTTCTTTAGCTAAACGAATAAAGCAGTTACATCATGAAGCACAGCAAAGTGAA c.1920
S M S S L A K R I K Q L H H E A Q Q S E p.640
. . . . . . g.27322
GGGGAACAGAATTACAGGAAGTTTAGGGCAAAGATTTGTCCTGGAGAAAATCAAGCAGCC c.1980
G E Q N Y R K F R A K I C P G E N Q A A p.660
. . | 12 . . . . g.31149
GAAGATGAACTAAGAAAAGAGATAAG | TAAAACGATGTTTGCAGAAATGGAAATCATTGGT c.2040
E D E L R K E I S | K T M F A E M E I I G p.680
. . . . . . g.31209
CAGTTTAACCTGGGATTTATAATAACCAAACTGAATGAGGATATCTTCATAGTGGACCAG c.2100
Q F N L G F I I T K L N E D I F I V D Q p.700
. . . . . . g.31269
CATGCCACGGACGAGAAGTATAACTTCGAGATGCTGCAGCAGCACACCGTGCTCCAGGGG c.2160
H A T D E K Y N F E M L Q Q H T V L Q G p.720
. | 13 . . . . . g.35456
CAGAGGCTCATAGC | ACCTCAGACTCTCAACTTAACTGCTGTTAATGAAGCTGTTCTGATA c.2220
Q R L I A | P Q T L N L T A V N E A V L I p.740
. . . . . | 14 . g.36354
GAAAATCTGGAAATATTTAGAAAGAATGGCTTTGATTTTGTTATCGATGAAAATG | CTCCA c.2280
E N L E I F R K N G F D F V I D E N A | P p.760
. . . . . . g.36414
GTCACTGAAAGGGCTAAACTGATTTCCTTGCCAACTAGTAAAAACTGGACCTTCGGACCC c.2340
V T E R A K L I S L P T S K N W T F G P p.780
. . . . . . g.36474
CAGGACGTCGATGAACTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCT c.2400
Q D V D E L I F M L S D S P G V M C R P p.800
. . . . | 15 . . g.40579
TCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCG | GTGATGATTGGGACT c.2460
S R V K Q M F A S R A C R K S | V M I G T p.820
. . . . . . g.40639
GCTCTTAACACAAGCGAGATGAAGAAACTGATCACCCACATGGGGGAGATGGACCACCCC c.2520
A L N T S E M K K L I T H M G E M D H P p.840
. . . . . . g.40699
TGGAACTGTCCCCATGGAAGGCCAACCATGAGACACATCGCCAACCTGGGTGTCATTTCT c.2580
W N C P H G R P T M R H I A N L G V I S p.860
g.40708
CAGAACTGA c.2589
Q N X p.862
. . . . . . g.40768
ccgtagtcactgtatggaataattggttttatcgcagatttttatgttttgaaagacaga c.*60
. . . . . . g.40828
gtcttcactaaccttttttgttttaaaatgaacctgctacttaaaaaaaatacacatcac c.*120
. . . . g.40868
acccatttaaaagtgatcttgagaaccttttcaaaccaga c.*160
(downstream sequence)
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