(used for variant description)
(last modified November 16, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_001135629.2 in the PPP1R21 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering PPP1R21 transcript NM_001135629.2.
(upstream sequence)
g.5005
ccacc c.-181
. . . . . . g.5065
ttcctcccaccccgggaacccggaagtggaggaggaggcgcggcggcggcggcggcggcg c.-121
. . . . . . g.5125
gctgcggtggccaagcaggcagatactgcctgacccgttcccgggagcgtgtctgggttt c.-61
. . . . . . g.5185
gggggcgggagacaggctgagccgcctgggcggcctggcctgtacggggcgggggaggcc c.-1
. . . . . | 02. g.15242
ATGGCCTCGGCTGAGTTGCAGGGGAAGTACCAGAAGCTGGCTCAGGAGTACTCGAAG | CTT c.60
M A S A E L Q G K Y Q K L A Q E Y S K | L p.20
. . . . . . g.15302
CGGGCTCAGAATCAGGTTCTGAAAAAAGGTGTTGTGGATGAACAAGCAAATTCTGCAGCT c.120
R A Q N Q V L K K G V V D E Q A N S A A p.40
| 03 . . . . . . g.18880
TTAAAG | GAGCAACTGAAAATGAAGGATCAGTCATTGAGAAAACTACAACAGGAAATGGAC c.180
L K | E Q L K M K D Q S L R K L Q Q E M D p.60
. . . . . . g.18940
AGTTTGACATTTCGAAATCTGCAGCTTGCCAAGAGGGTAGAACTACTTCAAGATGAACTA c.240
S L T F R N L Q L A K R V E L L Q D E L p.80
. . . | 04 . . . g.22384
GCTCTAAGTGAACCACGAGGCAAGAAAAACAAG | AAAAGTGGAGAATCTTCTTCTCAGTTG c.300
A L S E P R G K K N K | K S G E S S S Q L p.100
. . . . . . g.22444
AGTCAAGAGCAGAAGAGTGTCTTTGATGAAGATCTGCAAAAGAAGATAGAAGAGAATGAA c.360
S Q E Q K S V F D E D L Q K K I E E N E p.120
. | 05 . . . . . g.24030
CGGTTGCATATACAA | TTTTTTGAAGCTGATGAGCAGCACAAGCATGTGGAAGCAGAGCTG c.420
R L H I Q | F F E A D E Q H K H V E A E L p.140
. . . . . . g.24090
AGGAGTCGACTGGCCACTCTGGAGACAGAAGCAGCCCAGCACCAAGCTGTGGTTGACGGT c.480
R S R L A T L E T E A A Q H Q A V V D G p.160
. . . . . . g.24150
CTCACCCGGAAGTACATGGAAACCATTGAGAAGCTGCAGAACGACAAGGCTAAACTAGAA c.540
L T R K Y M E T I E K L Q N D K A K L E p.180
| 06 . . . . . | 07 g.25370
| GTGAAATCTCAGACTCTAGAAAAGGAAGCCAAGGAATGTCGACTTCGAACGGAAGAATG | T c.600
| V K S Q T L E K E A K E C R L R T E E C | p.200
. . . . . . g.25430
CAATTACAGTTAAAGACTCTTCATGAAGATTTGTCAGGTAGATTAGAGGAATCCTTATCA c.660
Q L Q L K T L H E D L S G R L E E S L S p.220
. . . | 08 . . . g.29194
ATCATCAATGAAAAAGTACCTTTTAATGATACAA | AATATAGTCAGTACAACGCTCTGAAC c.720
I I N E K V P F N D T K | Y S Q Y N A L N p.240
. . | 09. . . . g.29757
GTTCCACTCCACAATAGGAGACACCAG | CTGAAGATGCGAGATATTGCTGGGCAGGCCCTG c.780
V P L H N R R H Q | L K M R D I A G Q A L p.260
. . . . . . g.29817
GCTTTTGTTCAGGATCTTGTGACGGCTCTTCTAAACTTTCATACCTACACAGAACAGAGG c.840
A F V Q D L V T A L L N F H T Y T E Q R p.280
. . . . . | 10. g.35321
ATTCAAATTTTTCCTGTTGATTCTGCCATTGACACTATATCTCCATTGAATCAGAAG | TTC c.900
I Q I F P V D S A I D T I S P L N Q K | F p.300
. . . . . . g.35381
TCACAATACCTTCATGAAAATGCGTCCTATGTCCGCCCTCTTGAGGAAGGAATGCTTCAT c.960
S Q Y L H E N A S Y V R P L E E G M L H p.320
. . . | 11 . . g.35531
TTATTTGAAAGTATCACTGAGGATACTGTGACTGTCTTG | GAGACAACTGTGAAATTGAAA c.1020
L F E S I T E D T V T V L | E T T V K L K p.340
. . . . . . g.35591
ACTTTTTCAGAACACTTAACCTCCTACATATGTTTTCTTAGGAAGATTCTTCCCTATCAG c.1080
T F S E H L T S Y I C F L R K I L P Y Q p.360
| 12 . . . . . g.38966
TTAAAAAG | TTTAGAAGAAGAATGTGAATCCTCTCTTTGCACATCTGCGTTAAGAGCCAGG c.1140
L K S | L E E E C E S S L C T S A L R A R p.380
. . . . . . g.39026
AATCTAGAGCTGTCCCAGGACATGAAAAAAATGACAGCTGTGTTTGAGAAGCTGCAGACT c.1200
N L E L S Q D M K K M T A V F E K L Q T p.400
. . | 13 . . . . g.44190
TACATAGCTCTTCTTGCCTTGCCAA | GTACAGAGCCAGATGGACTCCTTCGGACAAACTAC c.1260
Y I A L L A L P S | T E P D G L L R T N Y p.420
. . . . . | 14 g.50864
AGTTCTGTGTTAACAAATGTTGGTGCTGCTCTGCATGGATTTCATGACGTTATGAAAG | AT c.1320
S S V L T N V G A A L H G F H D V M K D | p.440
. . . . . . g.50924
ATTTCCAAACATTATAGTCAAAAAGCTGCAATAGAGCATGAACTTCCAACAGCAACACAG c.1380
I S K H Y S Q K A A I E H E L P T A T Q p.460
. . . . . . g.50984
AAGCTGATAACAACTAATGACTGTATCCTGTCATCAGTAGTGGCATTAACAAATGGAGCA c.1440
K L I T T N D C I L S S V V A L T N G A p.480
| 15 . . . . . . g.55303
GGAAAG | ATTGCATCCTTCTTCAGCAACAATTTGGACTACTTCATTGCTTCACTGAGCTAT c.1500
G K | I A S F F S N N L D Y F I A S L S Y p.500
. . . . . . g.55363
GGACCTAAGGCAGCGAGTGGATTCATTAGTCCTCTTTCAGCTGAATGCATGCTACAGTAT c.1560
G P K A A S G F I S P L S A E C M L Q Y p.520
. . . | 16 . . g.59931
AAGAAAAAAGCTGCTGCCTATATGAAGTCTTTGAGAAAG | CCCCTCTTGGAGTCTGTGCCT c.1620
K K K A A A Y M K S L R K | P L L E S V P p.540
. . . . . . g.59991
TATGAAGAAGCACTGGCAAACCGCCGCATCCTTCTCAGCTCTACTGAAAGTCGAGAAGGC c.1680
Y E E A L A N R R I L L S S T E S R E G p.560
. | 17 . . . . . g.62772
CTTGCACAGCAA | GTTCAACAGAGTTTGGAAAAGATTTCTAAACTGGAGCAGGAAAAAGAA c.1740
L A Q Q | V Q Q S L E K I S K L E Q E K E p.580
. . . . . . g.62832
CATTGGATGTTGGAAGCACAATTAGCCAAAATCAAGCTAGAGAAAGAAAACCAGCGAATT c.1800
H W M L E A Q L A K I K L E K E N Q R I p.600
. . . . . . g.62892
GCAGATAAGCTGAAGAATACAGGTAGTGCCCAGCTGGTTGGGCTGGCCCAGGAAAATGCT c.1860
A D K L K N T G S A Q L V G L A Q E N A p.620
. . . . . . g.62952
GCTGTGTCAAATACTGCTGGCCAGGATGAAGCCACAGCTAAGGCTGTGTTGGAGCCCATT c.1920
A V S N T A G Q D E A T A K A V L E P I p.640
. | 18 . . . | 19 . g.71512
CAGAGCACCAGTCTA | ATTGGGACTTTAACCAGGACATCTGACAGTGAG | GTTCCAGATGTG c.1980
Q S T S L | I G T L T R T S D S E | V P D V p.660
. . . . . . g.71572
GAATCTCGTGAAGACTTAATTAAAAATCACTACATGGCAAGGATAGTGGAACTTACGTCT c.2040
E S R E D L I K N H Y M A R I V E L T S p.680
. . . . | 20 . . g.74261
CAGTTGCAGCTGGCTGACAGTAAGTCAGTGCATTTTTATGCCGAG | TGCCGAGCACTGTCT c.2100
Q L Q L A D S K S V H F Y A E | C R A L S p.700
. . . . . . g.74321
AAAAGACTGGCCTTGGCTGAAAAGTCTAAGGAAGCATTGACAGAAGAAATGAAACTTGCC c.2160
K R L A L A E K S K E A L T E E M K L A p.720
. . | 21 . . . . g.75607
AGTCAGAACATCAGCAGACTTCAG | GATGAGCTGACAACTACCAAGAGGAGTTACGAGGAT c.2220
S Q N I S R L Q | D E L T T T K R S Y E D p.740
. . . . . . g.75667
CAGTTAAGTATGATGAGTGACCACCTGTGCAGCATGAATGAGACATTATCTAAACAGAGA c.2280
Q L S M M S D H L C S M N E T L S K Q R p.760
. . . | 22 . . . g.78973
GAAGAGATTGACACACTAAAGATGTCCAGTAAG | GGGAATTCTAAAAAGAACAAGAGTCGA c.2340
E E I D T L K M S S K | G N S K K N K S R p.780
g.78976
TAG c.2343
X p.780
. . . . . . g.79036
ttttgaaatagctggttggcgactgttctttccagacctgctcctgctgcacagagccgc c.*60
. . . . . . g.79096
agggctgagaccacgtccatgctggctgccttcaggaagctaaagtattgttggacctag c.*120
. . . . . . g.79156
taaactagtcagtgttggaaacggccttgaaatatttaaaacatatttgtaaccagtgag c.*180
. . . . . . g.79216
gcaaatacagaagttgatgtcggcagtaaatggaaaacaatacgtatgtcatggatattg c.*240
. . . . . . g.79276
taggtttccttatgctgtttttactgtgcactttttaaaattaggttttaatttcagtat c.*300
. . . . . . g.79336
gtaagaacaaatattttgtatactttcaaactcaattatatggtaatcgatttggtatct c.*360
. . . . . . g.79396
atggaatagatatatgtttctggaaaaaaatgcttaaattgtcaaactgtcattacttct c.*420
. . . . . . g.79456
tattatagttgaaggcattctccagattctttttaaaagatttgttcatatttctctctc c.*480
. . . . . . g.79516
tctctctctctctctctctctcttctttctctctgagggagagggagccctccaaacttc c.*540
. . . . . . g.79576
agatcctgtgggtttagtatcattatcttcagctctttgataccctgtgttagagtaata c.*600
. . . . g.79624
gctaaaggaagttcatgtcaataaattcatacttatatcacactttca c.*648
(downstream sequence)
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