(used for variant description)
(last modified September 13, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_033123.3 in the PLCZ1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_052826.1, covering PLCZ1 transcript NM_033123.3.
(upstream sequence)
. . g.5026
tcacaatgggaattcagaccaaaagg c.-241
. . . . . . g.5086
aaaaaatgacagtcacctgacagtgtggtgcccagccaaccagctatacctcttttgaag c.-181
. . . . . | 02 . g.5568
attttaagaacttagcctcctgaacagtcttcttcgaaagtg | aaaagtggtaacagctga c.-121
. . . . . . g.5628
tgagtatcaagaaattattttctgcaaaggggcagagttaattgtatttggaacccatga c.-61
. . . . . . g.5688
cagcacctactggggaaagacttctaagtgaggagaaacggctctacaggtcatgaaact c.-1
. | 03 . . . . . g.6764
ATGGAAATGAG | ATGGTTTTTGTCAAAGATTCAGGATGACTTCAGAGGTGGAAAAATTAAC c.60
M E M R | W F L S K I Q D D F R G G K I N p.20
. . . . . . g.6824
CTAGAAAAAACTCAGAGGTTACTTGAAAAATTAGATATTCGGTGCAGTTATATTCATGTG c.120
L E K T Q R L L E K L D I R C S Y I H V p.40
. | 04 . . . . . g.19562
AAACAGATTTTTAAG | GACAATGACAGGCTGAAACAAGGAAGAATCACCATAGAAGAATTT c.180
K Q I F K | D N D R L K Q G R I T I E E F p.60
. . . . . . g.19622
AGAGCAATTTATCGAATTATCACGCACAGAGAAGAAATTATTGAGATTTTCAACACATAT c.240
R A I Y R I I T H R E E I I E I F N T Y p.80
. . . . . . g.19682
TCTGAAAACCGGAAAATTCTTTTAGCAAGTAATCTGGCTCAATTTCTGACACAAGAACAA c.300
S E N R K I L L A S N L A Q F L T Q E Q p.100
. . . . . . g.19742
TATGCAGCTGAGATGAGTAAAGCTATTGCTTTTGAGATCATTCAGAAATACGAGCCTATC c.360
Y A A E M S K A I A F E I I Q K Y E P I p.120
| 05. . . . . . g.23480
GAAGAAG | TTAGGAAAGCACACCAAATGTCATTAGAAGGTTTTACAAGATACATGGATTCA c.420
E E V | R K A H Q M S L E G F T R Y M D S p.140
. . . . . . g.23540
CGTGAATGTCTACTGTTTAAAAATGAATGTAGAAAAGTTTATCAAGATATGACTCATCCA c.480
R E C L L F K N E C R K V Y Q D M T H P p.160
. . . . . . g.23600
TTAAATGATTATTTTATTTCATCTTCACATAACACATATTTGGTATCTGATCAATTATTG c.540
L N D Y F I S S S H N T Y L V S D Q L L p.180
. . | 06 . . . g.30104
GGACCAAGTGACCTTTGGGGATATGTAAG | TGCCCTTGTGAAAGGATGCCGTTGTTTGGAG c.600
G P S D L W G Y V S | A L V K G C R C L E p.200
. . . . . . g.30164
ATTGACTGCTGGGATGGAGCACAAAATGAACCTGTTGTATATCATGGCTACACACTCACA c.660
I D C W D G A Q N E P V V Y H G Y T L T p.220
. . . . . | 07 . g.37750
AGCAAACTTCTGTTTAAAACTGTTATCCAAGCTATACACAAGTATGCATTCATG | ACATCT c.720
S K L L F K T V I Q A I H K Y A F M | T S p.240
. . . . . . g.37810
GACTACCCAGTGGTGCTCTCTTTAGAAAATCACTGCTCCACTGCCCAACAAGAAGTAATG c.780
D Y P V V L S L E N H C S T A Q Q E V M p.260
. . . . . . g.37870
GCAGACAATTTGCAGGCTACTTTTGGAGAGTCCTTGCTTTCTGATATGCTTGATGATTTT c.840
A D N L Q A T F G E S L L S D M L D D F p.280
. . | 08 . . . . g.41319
CCTGATACTCTACCATCACCAGAG | GCACTAAAATTCAAAATATTAGTTAAAAATAAGAAA c.900
P D T L P S P E | A L K F K I L V K N K K p.300
. . . . | 09 . g.41502
ATAGGAACCTTAAAGGAAACCCATGAAAGAAAAGGTTCTGATAAGCGTG | GAGACAATCAA c.960
I G T L K E T H E R K G S D K R G | D N Q p.320
. . . . . | 10. g.43112
GACAAGGAAACAGGGGTAAAAAAGTTACCTGGAGTAATGCTTTTCAAGAAAAAGAAG | ACC c.1020
D K E T G V K K L P G V M L F K K K K | T p.340
. . . . . . g.43172
AGGAAGCTAAAAATTGCTCTGGCCTTATCTGATCTTGTCATTTATACGAAAGCTGAGAAA c.1080
R K L K I A L A L S D L V I Y T K A E K p.360
. . . . . . g.43232
TTCAAAAGCTTTCAACATTCAAGATTATATCAGCAATTTAATGAAAATAATTCTATTGGG c.1140
F K S F Q H S R L Y Q Q F N E N N S I G p.380
. . . | 11 . . . g.46819
GAGACACAAGCCCGAAAACTTTCAAAATTGCGAG | TCCATGAGTTTATTTTTCACACCAGG c.1200
E T Q A R K L S K L R V | H E F I F H T R p.400
. . . . . . g.46879
AAGTTCATTACCAGAATATATCCCAAAGCAACAAGAGCAGACTCTTCTAATTTTAATCCC c.1260
K F I T R I Y P K A T R A D S S N F N P p.420
. . . | 12 . . . g.48009
CAAGAATTTTGGAATATAGGTTGTCAAATGG | TGGCTTTAAATTTCCAGACCCCTGGTCTG c.1320
Q E F W N I G C Q M V | A L N F Q T P G L p.440
. . . . . . g.48069
CCCATGGATCTGCAAAATGGGAAATTTTTGGATAATGGTGGTTCTGGATATATTTTGAAA c.1380
P M D L Q N G K F L D N G G S G Y I L K p.460
. . . . . . g.48129
CCACATTTCTTAAGAGAGAGTAAATCATACTTTAACCCAAGTAACATAAAAGAGGGTATG c.1440
P H F L R E S K S Y F N P S N I K E G M p.480
. . | 13 . . . . g.54880
CCAATTACACTTACAATAAGG | CTCATCAGTGGTATCCAGTTGCCTCTTACTCATTCATCA c.1500
P I T L T I R | L I S G I Q L P L T H S S p.500
. . . . . . g.54940
TCTAACAAAGGTGATTCATTAGTAATTATAGAAGTTTTTGGTGTTCCAAATGATCAAATG c.1560
S N K G D S L V I I E V F G V P N D Q M p.520
. . . | 14 . . . g.58809
AAGCAGCAGACTCGTGTAATTAAAAAAAATG | CTTTTAGTCCAAGATGGAATGAAACATTC c.1620
K Q Q T R V I K K N A | F S P R W N E T F p.540
. . . . . . g.58869
ACATTTATTATTCATGTCCCAGAATTGGCATTGATACGTTTTGTTGTTGAAGGTCAAGGT c.1680
T F I I H V P E L A L I R F V V E G Q G p.560
. . . . . . g.58929
TTAATAGCAGGAAATGAATTTCTTGGGCAATATACTTTGCCACTTCTATGCATGAACAAA c.1740
L I A G N E F L G Q Y T L P L L C M N K p.580
| 15 . . . . . . g.59794
G | GTTATCGTCGTATTCCTCTGTTTTCCAGAATGGGTGAGAGCCTTGAGCCTGCTTCACTG c.1800
G | Y R R I P L F S R M G E S L E P A S L p.600
. . g.59821
TTTGTTTATGTTTGGTACGTCAGATAA c.1827
F V Y V W Y V R X p.608
. . . . . . g.59881
cagctaatgataaatgacatatcattagctatgcatcgcaataaaacagccaaaatgaat c.*60
g.59884
gtc c.*63
(downstream sequence)
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