(used for variant description)
(last modified July 18, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_013328.3 in the PYCR2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_044963.1, covering PYCR2 transcript NM_013328.3.
(upstream sequence)
. . . . . g.5050
gattggtcgcccggacggggcggggccacgtggcctaaggcgccatcagc c.-181
. . . . . . g.5110
cgcccgggagatatccgccgggggagaatagggttgcaccatcccagaagctgctgttag c.-121
. . . . . . g.5170
ctcgccggtcctcggcacgccgcccgttcgcccctgcgctgtccgcccttcccctagcgt c.-61
. . . . . . g.5230
tacttccggtccctcgctgagggggttcgtgcggctcccaggaggcgtgaaccgcggacc c.-1
. . . . . . g.5290
ATGAGCGTGGGCTTCATCGGGGCCGGCCAGCTGGCCTATGCTCTGGCGCGGGGCTTCACG c.60
M S V G F I G A G Q L A Y A L A R G F T p.20
| 02. . . . . . g.5622
GCCGCAG | GCATCCTGTCGGCTCACAAGATAATAGCCAGCTCCCCAGAAATGAACCTGCCC c.120
A A G | I L S A H K I I A S S P E M N L P p.40
. | 03 . . . . g.6999
ACGGTGTCCGCGCTCAGG | AAGATGGGTGTGAACCTGACACGCAGCAACAAGGAGACGGTG c.180
T V S A L R | K M G V N L T R S N K E T V p.60
. . . . . . g.7059
AAGCACAGCGACGTCCTGTTTCTGGCTGTGAAGCCACATATCATCCCCTTCATCCTGGAT c.240
K H S D V L F L A V K P H I I P F I L D p.80
. . . . . . g.7119
GAGATTGGGGCCGACGTGCAAGCCAGACACATCGTGGTCTCCTGTGCGGCTGGTGTCACC c.300
E I G A D V Q A R H I V V S C A A G V T p.100
. | 04 . . . . g.7303
ATCAGCTCTGTGGAGAAG | AAGCTGATGGCATTCCAGCCAGCCCCCAAAGTGATTCGCTGC c.360
I S S V E K | K L M A F Q P A P K V I R C p.120
. . . . . . g.7363
ATGACCAACACACCTGTGGTAGTGCAGGAAGGCGCTACAGTGTACGCCACGGGCACCCAT c.420
M T N T P V V V Q E G A T V Y A T G T H p.140
. . . . . . g.7423
GCCCTGGTGGAGGATGGGCAGCTCCTGGAGCAGCTCATGAGCAGCGTGGGCTTCTGCACT c.480
A L V E D G Q L L E Q L M S S V G F C T p.160
. . . . . . g.7483
GAGGTGGAAGAGGACCTCATCGATGCCGTCACGGGGCTCAGTGGCAGCGGGCCTGCCTAT c.540
E V E E D L I D A V T G L S G S G P A Y p.180
| 05 . . . . . . g.7756
| GCATTCATGGCTCTGGACGCATTGGCTGATGGTGGGGTGAAGATGGGTTTGCCACGGCGC c.600
| A F M A L D A L A D G G V K M G L P R R p.200
. . . | 06 . . . g.7996
CTGGCAATCCAACTCGGGGCCCAGGCTTTGCTG | GGAGCTGCCAAGATGCTGCTGGACTCG c.660
L A I Q L G A Q A L L | G A A K M L L D S p.220
. . . . . . g.8056
GAGCAGCATCCATGCCAGCTTAAGGACAATGTCTGCTCCCCTGGGGGAGCCACCATCCAC c.720
E Q H P C Q L K D N V C S P G G A T I H p.240
. . . . . . g.8116
GCCCTGCACTTTCTAGAGAGTGGGGGCTTCCGCTCTCTGCTCATCAATGCAGTTGAGGCC c.780
A L H F L E S G G F R S L L I N A V E A p.260
. | 07. . . . . g.8763
TCCTGTATCCGAACACG | AGAGCTACAGTCCATGGCCGACCAAGAAAAGATCTCCCCAGCT c.840
S C I R T R | E L Q S M A D Q E K I S P A p.280
. . . . . . g.8823
GCCCTTAAGAAGACCCTCTTAGACAGAGTGAAGCTGGAATCCCCCACAGTCTCCACACTG c.900
A L K K T L L D R V K L E S P T V S T L p.300
. . . . . . g.8883
ACCCCCTCCAGCCCAGGGAAGCTCCTCACAAGAAGCCTGGCCCTGGGAGGCAAGAAGGAC c.960
T P S S P G K L L T R S L A L G G K K D p.320
g.8886
TAA c.963
X p.320
. . . . . . g.8946
ggcagcatctgtcccctctgtgattcagagcccttagttgagagcccctgccgcccctgc c.*60
. . . . . . g.9006
cacccccctgccccgctcccaccattgcccctcctcagctgtgcaaggagaaagcatgct c.*120
. . . . . . g.9066
taggaagttttcaggtccttgtgataaaacctccttaaatctgttcagaccaagcaatgc c.*180
. . . . . . g.9126
gagcttcctctcctgtcccatgttggaagttgctctgaaggggtggtagatgctggaagc c.*240
. . . . . . g.9186
cagacacaaccctgcgtacgctgctcagttggtggagactggggctgggactggagtcag c.*300
. . . . . . g.9246
cccagctgggaggaggggctggggaggatctgcagctgaagcccgaggcagggttggtgt c.*360
. . . . . . g.9306
gatgccaaggcaaagtggtgaggagaaaacaggaaacgggctttctctgaattggtaaat c.*420
. . . . . . g.9366
gggaaagaagtgagcaacttaagattgtcacaattaatcacaagtgtacaggattagact c.*480
. . . . . . g.9426
gggtttatatttaactcttgcttcataggtgtaccatttaaagagtgttatttaatgcta c.*540
. . . g.9464
agtttaactgctttaataaagtttatttttaaatatct c.*578
(downstream sequence)
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