(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the PLCG2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering PLCG2 transcript NM_002661.3.
(upstream sequence)
. . . . . g.1058
agtagcgagcgccggcggcggagggcgtgagcggcgctgagtgacccgagtcgggacg c.-121
. . . . . . g.1118
cgggctgcgcgcgcgggaccccggagcccaaacccggggcaggcgggcagctgtgcccgg c.-61
. . | 02 . . . . g.7696
gcggcacggccag | cttcctgatttctcccgattccttccttctccctggagcggccgaca c.-1
. . . . . . g.7756
ATGTCCACCACGGTCAATGTAGATTCCCTTGCGGAATATGAGAAGAGCCAGATCAAGAGA c.60
M S T T V N V D S L A E Y E K S Q I K R p.20
. . . . . . g.7816
GCCCTGGAGCTGGGGACGGTGATGACTGTGTTCAGCTTCCGCAAGTCCACCCCCGAGCGG c.120
A L E L G T V M T V F S F R K S T P E R p.40
. . . . . . g.7876
AGAACCGTCCAGGTGATCATGGAGACGCGGCAGGTGGCCTGGAGCAAGACCGCTGACAAG c.180
R T V Q V I M E T R Q V A W S K T A D K p.60
. | 03 . . . . . g.76197
ATCGAGGGCTTCT | TGGATATCATGGAAATAAAAGAAATCCGCCCAGGGAAGAACTCCAAA c.240
I E G F L | D I M E I K E I R P G K N S K p.80
. . . . . . g.76257
GATTTCGAGCGAGCAAAAGCAGTTCGCCAGAAAGAAGACTGCTGCTTCACCATCCTATAT c.300
D F E R A K A V R Q K E D C C F T I L Y p.100
. . . | 04. . . g.79992
GGCACTCAGTTCGTCCTCAGCACGCTCAGCTTGGCAG | CTGACTCTAAAGAGGATGCAGTT c.360
G T Q F V L S T L S L A A | D S K E D A V p.120
. . . . . . g.80052
AACTGGCTCTCTGGCTTGAAAATCTTACACCAGGAAGCGATGAATGCGTCCACGCCCACC c.420
N W L S G L K I L H Q E A M N A S T P T p.140
. | 05 . . . . | 06 g.90921
ATTATCGAGAG | TTGGCTGAGAAAGCAGATATATTCTGTGGATCAAACCAGAAGAAACAG | C c.480
I I E S | W L R K Q I Y S V D Q T R R N S | p.160
. . . . . . g.90981
ATCAGTCTCCGAGAGTTGAAGACCATCTTGCCCCTGATCAACTTTAAAGTGAGCAGTGCC c.540
I S L R E L K T I L P L I N F K V S S A p.180
. . | 07 . . . . g.92594
AAGTTCCTTAAAGATAAGTTTGTG | GAAATAGGAGCACACAAAGATGAGCTCAGCTTTGAA c.600
K F L K D K F V | E I G A H K D E L S F E p.200
. . . . | 08 . g.102628
CAGTTCCATCTCTTCTATAAAAAACTTATGTTTGAACAGCAAAAATCG | ATTCTCGATGAA c.660
Q F H L F Y K K L M F E Q Q K S | I L D E p.220
. . . | 09 . . . g.105003
TTCAAAAAGGATTCGTCCGTGTTCATCCTGGG | GAACACTGACAGGCCGGATGCCTCTGCT c.720
F K K D S S V F I L G | N T D R P D A S A p.240
. . . . | 10 . . g.110893
GTTTACCTGCATGACTTCCAGAGGTTTCTCATACATGAACAGCAG | GAGCATTGGGCTCAG c.780
V Y L H D F Q R F L I H E Q Q | E H W A Q p.260
. . . . . . g.110953
GATCTGAACAAAGTCCGTGAGCGGATGACAAAGTTCATTGATGACACCATGCGTGAAACT c.840
D L N K V R E R M T K F I D D T M R E T p.280
. . | 11. . . . g.113211
GCTGAGCCTTTCTTGTTTGTGGATGAG | TTCCTCACGTACCTGTTTTCACGAGAAAACAGC c.900
A E P F L F V D E | F L T Y L F S R E N S p.300
. . . . . . g.113271
ATCTGGGATGAGAAGTATGACGCGGTGGACATGCAGGACATGAACAACCCCCTGTCTCAT c.960
I W D E K Y D A V D M Q D M N N P L S H p.320
. . | 12 . . . . g.115449
TACTGGATCTCCTCGTCACATAACAC | GTACCTTACAGGTGACCAGCTGCGGAGCGAGTCG c.1020
Y W I S S S H N T | Y L T G D Q L R S E S p.340
. . . . . | 13 . g.117521
TCCCCAGAAGCTTACATCCGCTGCCTGCGCATGGGCTGTCGCTGCATTGAAC | TGGACTGC c.1080
S P E A Y I R C L R M G C R C I E L | D C p.360
. . . . . . g.117581
TGGGACGGGCCCGATGGGAAGCCGGTCATCTACCATGGCTGGACGCGGACTACCAAGATC c.1140
W D G P D G K P V I Y H G W T R T T K I p.380
. . . . . | 14 . g.122325
AAGTTTGACGACGTCGTGCAGGCCATCAAAGACCACGCCTTTGTTACCTCGAG | CTTCCCA c.1200
K F D D V V Q A I K D H A F V T S S | F P p.400
. . . . . . g.122385
GTGATCCTGTCCATCGAGGAGCACTGCAGCGTGGAGCAACAGCGTCACATGGCCAAGGCC c.1260
V I L S I E E H C S V E Q Q R H M A K A p.420
. . . . . . g.122445
TTCAAGGAAGTATTTGGCGACCTGCTGTTGACGAAGCCCACGGAGGCCAGTGCTGACCAG c.1320
F K E V F G D L L L T K P T E A S A D Q p.440
. . . . | 15 . . g.127127
CTGCCCTCGCCCAGCCAGCTGCGGGAGAAGATCATCATCAAG | CATAAGAAGCTGGGCCCC c.1380
L P S P S Q L R E K I I I K | H K K L G P p.460
. . . . . . g.127187
CGAGGCGATGTGGATGTCAACATGGAGGACAAGAAGGACGAACACAAGCAACAGGGGGAG c.1440
R G D V D V N M E D K K D E H K Q Q G E p.480
. . | 16. . . . g.129424
CTGTACATGTGGGATTCCATTGACCAG | AAATGGACTCGGCACTACTGCGCCATTGCCGAT c.1500
L Y M W D S I D Q | K W T R H Y C A I A D p.500
. . . . . | 17. g.130125
GCCAAGCTGTCCTTCAGTGATGACATTGAACAGACTATGGAGGAGGAAGTGCCCCAG | GAT c.1560
A K L S F S D D I E Q T M E E E V P Q | D p.520
. . . . . . g.130185
ATACCCCCTACAGAACTACATTTTGGGGAGAAATGGTTCCACAAGAAGGTGGAGAAGAGG c.1620
I P P T E L H F G E K W F H K K V E K R p.540
. . . . . . g.130245
ACGAGTGCCGAGAAGTTGCTGCAGGAATACTGCATGGAGACGGGGGGCAAGGATGGCACC c.1680
T S A E K L L Q E Y C M E T G G K D G T p.560
. . . . . | 18 . g.132233
TTCCTGGTTCGGGAGAGCGAGACCTTCCCCAATGACTACACCCTGTCCTTCTG | GCGGTCA c.1740
F L V R E S E T F P N D Y T L S F W | R S p.580
. . . . . . g.132293
GGCCGGGTCCAGCACTGCCGGATCCGCTCCACCATGGAGGGCGGGACCCTGAAATACTAC c.1800
G R V Q H C R I R S T M E G G T L K Y Y p.600
. . . . . . g.132353
TTGACTGACAACCTCACCTTCAGCAGCATCTATGCCCTCATCCAGCACTACCGCGAGACG c.1860
L T D N L T F S S I Y A L I Q H Y R E T p.620
. . . . . . g.132413
CACCTGCGCTGCGCCGAGTTCGAGCTGCGGCTCACGGACCCTGTGCCCAACCCCAACCCC c.1920
H L R C A E F E L R L T D P V P N P N P p.640
. | 19 . . . . . g.134349
CACGAGTCCAAGCC | GTGGTACTATGACAGCCTGAGCCGCGGAGAGGCAGAGGACATGCTG c.1980
H E S K P | W Y Y D S L S R G E A E D M L p.660
. . . . . . g.134409
ATGAGGATTCCCCGGGACGGGGCCTTCCTGATCCGGAAGCGAGAGGGGAGCGACTCCTAT c.2040
M R I P R D G A F L I R K R E G S D S Y p.680
. | 20 . . . . . g.141236
GCCATCACCTTCAG | GGCTAGGGGCAAGGTAAAGCATTGTCGCATCAACCGGGACGGCCGG c.2100
A I T F R | A R G K V K H C R I N R D G R p.700
. . . . . . g.141296
CACTTTGTGCTGGGGACCTCCGCCTATTTTGAGAGTCTGGTGGAGCTCGTCAGTTACTAC c.2160
H F V L G T S A Y F E S L V E L V S Y Y p.720
. . . . . . g.141356
GAGAAGCATTCACTCTACCGAAAGATGAGACTGCGCTACCCCGTGACCCCCGAGCTCCTG c.2220
E K H S L Y R K M R L R Y P V T P E L L p.740
. | 21 . . . . . g.142949
GAGCGCTACAATATG | GAAAGAGATATAAACTCCCTCTACGACGTCAGCAGAATGTATGTG c.2280
E R Y N M | E R D I N S L Y D V S R M Y V p.760
. . | 22. . . . g.145224
GATCCCAGTGAAATCAATCCGTCCATG | CCTCAGAGAACCGTGAAAGCTCTGTATGACTAC c.2340
D P S E I N P S M | P Q R T V K A L Y D Y p.780
. . . . . . g.145284
AAAGCCAAGCGAAGCGATGAGCTGAGCTTCTGCCGTGGTGCCCTCATCCACAATGTCTCC c.2400
K A K R S D E L S F C R G A L I H N V S p.800
. | 23. . . . . g.148831
AAGGAGCCCGGGGGCTG | GTGGAAAGGAGACTATGGAACCAGGATCCAGCAGTACTTCCCA c.2460
K E P G G W | W K G D Y G T R I Q Q Y F P p.820
. . . . . | 24 . g.150270
TCCAACTACGTCGAGGACATCTCAACTGCAGACTTCGAGGAGCTAGAAAAGCAG | ATTATT c.2520
S N Y V E D I S T A D F E E L E K Q | I I p.840
. . . . . . g.150330
GAAGACAATCCCTTAGGGTCTCTTTGCAGAGGAATATTGGACCTCAATACCTATAACGTC c.2580
E D N P L G S L C R G I L D L N T Y N V p.860
| 25 . . . . . . g.153262
G | TGAAAGCCCCTCAGGGAAAAAACCAGAAGTCCTTTGTCTTCATCCTGGAGCCCAAGCAG c.2640
V | K A P Q G K N Q K S F V F I L E P K Q p.880
. . . . . . g.153322
CAGGGCGATCCTCCGGTGGAGTTTGCCACAGACAGGGTGGAGGAGCTCTTTGAGTGGTTT c.2700
Q G D P P V E F A T D R V E E L F E W F p.900
. . . | 26 . . g.156156
CAGAGCATCCGAGAGATCACCTGGAAGATTGACACCAAG | GAGAACAACATGAAGTACTGG c.2760
Q S I R E I T W K I D T K | E N N M K Y W p.920
. . . . . . g.156216
GAGAAGAACCAGTCCATCGCCATCGAGCTCTCTGACCTGGTTGTCTACTGCAAACCAACC c.2820
E K N Q S I A I E L S D L V V Y C K P T p.940
. . | 27 . . . . g.157913
AGCAAAACCAAGGACAACTTAG | AAAATCCTGACTTCCGAGAAATCCGCTCCTTTGTGGAG c.2880
S K T K D N L E | N P D F R E I R S F V E p.960
. . . . . . g.157973
ACGAAGGCTGACAGCATCATCAGACAGAAGCCCGTCGACCTCCTGAAGTACAATCAAAAG c.2940
T K A D S I I R Q K P V D L L K Y N Q K p.980
. . . . . . g.158033
GGCCTGACCCGCGTCTACCCAAAGGGACAAAGAGTTGACTCTTCAAACTACGACCCCTTC c.3000
G L T R V Y P K G Q R V D S S N Y D P F p.1000
. . . . . | 28 . g.159472
CGCCTCTGGCTGTGCGGTTCTCAGATGGTGGCACTCAATTTCCAGACGGCAG | ATAAGTAC c.3060
R L W L C G S Q M V A L N F Q T A D | K Y p.1020
. . . . . . g.159532
ATGCAGATGAATCACGCATTGTTTTCTCTCAATGGGCGCACGGGCTACGTTCTGCAGCCT c.3120
M Q M N H A L F S L N G R T G Y V L Q P p.1040
. . . . . . g.159592
GAGAGCATGAGGACAGAGAAATATGACCCGATGCCACCCGAGTCCCAGAGGAAGATCCTG c.3180
E S M R T E K Y D P M P P E S Q R K I L p.1060
. | 29 . . . . g.160549
ATGACGCTGACAGTCAAG | GTTCTCGGTGCTCGCCATCTCCCCAAACTTGGACGAAGTATT c.3240
M T L T V K | V L G A R H L P K L G R S I p.1080
. . . . . . g.160609
GCCTGTCCCTTTGTAGAAGTGGAGATCTGTGGAGCCGAGTATGACAACAACAAGTTCAAG c.3300
A C P F V E V E I C G A E Y D N N K F K p.1100
. | 30 . . . . . g.161645
ACGACGGTTGTGA | ATGATAATGGCCTCAGCCCTATCTGGGCTCCAACACAGGAGAAGGTG c.3360
T T V V N | D N G L S P I W A P T Q E K V p.1120
. . . . . . g.161705
ACATTTGAAATTTATGACCCAAACCTGGCATTTCTGCGCTTTGTGGTTTATGAAGAAGAT c.3420
T F E I Y D P N L A F L R F V V Y E E D p.1140
. . . . . . g.161765
ATGTTCAGCGATCCCAACTTTCTTGCTCATGCCACTTACCCCATTAAAGCAGTCAAATCA c.3480
M F S D P N F L A H A T Y P I K A V K S p.1160
| 31 . . . . . . g.167940
G | GATTCAGGTCCGTTCCTCTGAAGAATGGGTACAGCGAGGACATAGAGCTGGCTTCCCTC c.3540
G | F R S V P L K N G Y S E D I E L A S L p.1180
. . . | 32 . . . g.178431
CTGGTTTTCTGTGAGATGCGGCCAGTCCTG | GAGAGCGAAGAGGAACTTTACTCCTCCTGT c.3600
L V F C E M R P V L | E S E E E L Y S S C p.1200
. . . . . . g.178491
CGCCAGCTGAGGAGGCGGCAAGAAGAACTGAACAACCAGCTCTTTCTGTATGACACACAC c.3660
R Q L R R R Q E E L N N Q L F L Y D T H p.1220
. . . . . . g.178551
CAGAACTTGCGCAATGCCAACCGGGATGCCCTGGTTAAAGAGTTCAGTGTTAATGAGAAC c.3720
Q N L R N A N R D A L V K E F S V N E N p.1240
. . . | 33 . . . g.179687
CAGCTCCAGCTGTACCAGGAGAAATGCAACAAGAG | GTTAAGAGAGAAGAGAGTCAGCAAC c.3780
Q L Q L Y Q E K C N K R | L R E K R V S N p.1260
. g.179705
AGCAAGTTTTACTCATAG c.3798
S K F Y S X p.1265
. . . . . . g.179765
aagctggggtatgtgtgtaagggtattgtgtgtgtgcgcatgtgtgtttgcatgtaggag c.*60
. . . . . . g.179825
aacgtgccctattcacactctgggaagacgctaatctgtgacatcttttcttcaagcctg c.*120
. . . . . . g.179885
ccatcaaggacatttcttaagacccaactggcatgagttggggtaatttcctattatttt c.*180
. . . . . . g.179945
catcttggacaactttcttaacttatattctttatagaggattccccaaaatgtgctcct c.*240
. . . . . g.180001
catttttggcctctcatgttccaaacctcattgaataaaagcaatgaaaaccttga c.*296
(downstream sequence)
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