mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999022 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:94931105A>GN/A show variant in all transcripts IGV

HGNC symbol

SERPINA9

Ensembl transcript ID

ENST00000546329

Genbank transcript ID

N/A

UniProt peptide

Q86WD7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.935T>C
cDNA.1014T>C
g.14922T>C

AA changes

V312A Score: 64 explain score(s)

position(s) of altered AA
if AA alteration in CDS

312

frameshift

known variant

Reference ID: rs11628722

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1253	880	2133
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.084	0.073
	-0.108	0.032
(flanking)	2.163	0.039

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	14913	wt: 0.6966 / mu: 0.7252 (marginal change - not scored)	wt: GGGCATCCAAAATGT mu: GGGCATCCAAAATGC	GCAT\|ccaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

312

mutated

not conserved

312

Ptroglodytes

not conserved

ENSPTRG00000006681

330

Mmulatta

all identical

ENSMMUG00000012356

330

Fcatus

not conserved

ENSFCAG00000010234

331

Mmusculus

not conserved

ENSMUSG00000058260

332

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1005 / 1005

position (AA) of stopcodon in wt / mu AA sequence

335 / 335

position of stopcodon in wt / mu cDNA

1084 / 1084

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

80 / 80

chromosome

strand

-1

last intron/exon boundary

928

theoretical NMD boundary in CDS

798

length of CDS

1005

coding sequence (CDS) position

935

cDNA position
(for ins/del: last normal base / first normal base)

1014

gDNA position
(for ins/del: last normal base / first normal base)

14922

chromosomal position
(for ins/del: last normal base / first normal base)

94931105

original gDNA sequence snippet

GAAGATGGGCATCCAAAATGTCTTTGACAAAAATGCTGATT

altered gDNA sequence snippet

GAAGATGGGCATCCAAAATGCCTTTGACAAAAATGCTGATT

original cDNA sequence snippet

GAAGATGGGCATCCAAAATGTCTTTGACAAAAATGCTGATT

altered cDNA sequence snippet

GAAGATGGGCATCCAAAATGCCTTTGACAAAAATGCTGATT

wildtype AA sequence

MRSAGGRGEI KVRRELQPSK QVSGLTNHAR TGQEKRNLQR LVLETPSQNI FFSPVSVSTS
LAMLSLGAHS VTKTQILQGL GFNLTHTPES AIHQGFQHLV HSLTVPSKDL TLKMGSALFV
KKELQLQANF LGNVKRLYEA EVFSTDFSNP SIAQARINSH VKKKTQGKVV DIIQGLDLLT
AMVLVNHIFF KAKWEKPFHP EYTRKNFPFL VGEQVTVHVP MMHQKEQFAF GVDTELNCFV
LQMDYKGDAV AFFVLPSKGK MRQLEQALSA RTLRKWSHSL QKRWIEVFIP RFSISASYNL
ETILPKMGIQ NVFDKNADFS GIAKRDSLQV SKVS*

mutated AA sequence

speed

0.17 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project