(used for variant description)
(last modified May 12, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_000942.4 in the PPIB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering PPIB transcript NM_000942.4.
(upstream sequence)
. . . . g.5049
actatccggcgccgagccggaggggggaaacggcgcccgccgcccgccc c.-121
. . . . . . g.5109
ggagcccgcgagcaaccccagtcccccccacccgcgcgtggcggcgccggctccctagcc c.-61
. . . . . . g.5169
accgcggccccaccctcttccggcctcagctgtccgggctgctttcgcctccgcctgtgg c.-1
. . . . . . g.5229
ATGCTGCGCCTCTCCGAACGCAACATGAAGGTGCTCCTTGCCGCCGCCCTCATCGCGGGG c.60
M L R L S E R N M K V L L A A A L I A G p.20
. . . . . . g.5289
TCCGTCTTCTTCCTGCTGCTGCCGGGACCTTCTGCGGCCGATGAGAAGAAGAAGGGGCCC c.120
S V F F L L L P G P S A A D E K K K G P p.40
. | 02 . . . . . g.6046
AAAGTCACCGTCAAG | GTGTATTTTGACCTACGAATTGGAGATGAAGATGTAGGCCGGGTG c.180
K V T V K | V Y F D L R I G D E D V G R V p.60
. . . . . . g.6106
ATCTTTGGTCTCTTCGGAAAGACTGTTCCAAAAACAGTGGATAATTTTGTGGCCTTAGCT c.240
I F G L F G K T V P K T V D N F V A L A p.80
| 03 . . . . . g.8009
ACAGGAGAG | AAAGGATTTGGCTACAAAAACAGCAAATTCCATCGTGTAATCAAGGACTTC c.300
T G E | K G F G Y K N S K F H R V I K D F p.100
. . . . | 04 . . g.11263
ATGATCCAGGGCGGAGACTTCACCAGGGGAGATGGCACAGGAG | GAAAGAGCATCTACGGT c.360
M I Q G G D F T R G D G T G G | K S I Y G p.120
. . . . . . g.11323
GAGCGCTTCCCCGATGAGAACTTCAAACTGAAGCACTACGGGCCTGGCTGGGTGAGCATG c.420
E R F P D E N F K L K H Y G P G W V S M p.140
. . . . . . g.11383
GCCAACGCAGGCAAAGACACCAACGGCTCCCAGTTCTTCATCACGACAGTCAAGACAGCC c.480
A N A G K D T N G S Q F F I T T V K T A p.160
. . . . | 05 . g.12022
TGGCTAGATGGCAAGCATGTGGTGTTTGGCAAAGTTCTAGAGGGCATG | GAGGTGGTGCGG c.540
W L D G K H V V F G K V L E G M | E V V R p.180
. . . . . . g.12082
AAGGTGGAGAGCACCAAGACAGACAGCCGGGATAAACCCCTGAAGGATGTGATCATCGCA c.600
K V E S T K T D S R D K P L K D V I I A p.200
. . . . . g.12133
GACTGCGGCAAGATCGAGGTGGAGAAGCCCTTTGCCATCGCCAAGGAGTAG c.651
D C G K I E V E K P F A I A K E X p.216
. . . . . . g.12193
ggcacagggacatctttctttgagtgaccgtctgtgcaggccctgtagtccgccacaggg c.*60
. . . . . . g.12253
ctctgagctgcactggccccggtgctggcatctggtggagcggacccactcccctcacat c.*120
. . . . . . g.12313
tccacaggcccatggactcacttttgtaacaaactcctaccaacactgaccaataaaaaa c.*180
. . g.12341
aaatgtgggtttttttttttttaatata c.*208
(downstream sequence)
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