mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 2.64433863604611e-27 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:94935901G>CN/A show variant in all transcripts IGV

HGNC symbol

SERPINA9

Ensembl transcript ID

ENST00000298845

Genbank transcript ID

NM_001042518

UniProt peptide

Q86WD7

alteration type

single base exchange

alteration region

intron

DNA changes

g.10126C>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs12879019

database	homozygous (C/C)	heterozygous	allele carriers
1000G	126	641	767
ExAC	2836	19359	22195

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.713	1
	3.402	0.996
(flanking)	-0.263	0.107

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 gained	10122	0.59	mu: ACCAAGACCGAGATT	CAAG\|accg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
93	93	CONFLICT	Q -> E (in Ref. 4; BAG62686).	might get lost (downstream of altered splice site)
101	101	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
174	174	CONFLICT	R -> G (in Ref. 1; AAO65245).	might get lost (downstream of altered splice site)
207	207	CONFLICT	F -> S (in Ref. 4; BAG62686).	might get lost (downstream of altered splice site)
224	224	CONFLICT	N -> D (in Ref. 1; AAO65242).	might get lost (downstream of altered splice site)
228	228	CONFLICT	L -> P (in Ref. 1; AAO65244).	might get lost (downstream of altered splice site)
371	371	CONFLICT	T -> A (in Ref. 1; AAO65242).	might get lost (downstream of altered splice site)
390	390	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
411	411	CONFLICT	V -> A (in Ref. 1; AAO65243 and 4; BAG62686).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

40 / 40

chromosome

strand

-1

last intron/exon boundary

844

theoretical NMD boundary in CDS

754

length of CDS

1008

coding sequence (CDS) position

N/A

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

N/A

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

10126

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

94935901

original gDNA sequence snippet

CCCACTCAGTCACCAAGACCCAGATTCTCCAGGGCCTGGGC

altered gDNA sequence snippet

CCCACTCAGTCACCAAGACCGAGATTCTCCAGGGCCTGGGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MQGQGRRRGT CKDIFCSKMA SYLYGVLFAV GLCAPIYCVS PANAPSAYPR PSSTKSTPAS
QVYSLNTDFA FRLYRRLVLE TPSQNIFFSP ARINSHVKKK TQGKVVDIIQ GLDLLTAMVL
VNHIFFKAKW EKPFHPEYTR KNFPFLVGEQ VTVHVPMMHQ KEQFAFGVDT ELNCFVLQMD
YKGDAVAFFV LPSKGKMRQL EQALSARTLR KWSHSLQKRW IEVFIPRFSI SASYNLETIL
PKMGIQNVFD KNADFSGIAK RDSLQVSKAT HKAVLDVSEE GTEATAATTT KFIVRSKDGP
SYFTVSFNRT FLMMITNKAT DGILFLGKVE NPTKS*

mutated AA sequence

N/A

speed

0.89 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