mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999986 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
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)

chr9:117103973A>GN/A show variant in all transcripts IGV

HGNC symbol

AKNA

Ensembl transcript ID

ENST00000374079

Genbank transcript ID

N/A

UniProt peptide

Q7Z591

alteration type

single base exchange

alteration region

CDS

DNA changes

c.742T>C
cDNA.742T>C
g.52713T>C

AA changes

S248P Score: 74 explain score(s)

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

248

frameshift

known variant

Reference ID: rs2250242

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1018	1020	2038
ExAC	17473	-2179	15294

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.108	0.007
	0	0
(flanking)	-0.121	0

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 increased	52714	wt: 0.55 / mu: 0.84	wt: AGCATCTTCAACTCC mu: AGCACCTTCAACTCC	CATC\|ttca
Donor marginally increased	52704	wt: 0.9988 / mu: 0.9988 (marginal change - not scored)	wt: CGAGGAGAAAAGCAT mu: CGAGGAGAAAAGCAC	AGGA\|gaaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

248

mutated

not conserved

248

Ptroglodytes

not conserved

ENSPTRG00000021288

1250

Mmulatta

not conserved

ENSMMUG00000008018

1303

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000039158

1275

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
534	534	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
771	804	REGION	PEST.	might get lost (downstream of altered splice site)
799	799	CONFLICT	D -> V (in Ref. 3; BAD18725/BAC85132).	might get lost (downstream of altered splice site)
816	816	CONFLICT	R -> S (in Ref. 3; BAD18725).	might get lost (downstream of altered splice site)
839	839	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
848	848	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
911	932	REGION	PEST.	might get lost (downstream of altered splice site)
1037	1037	CONFLICT	L -> F (in Ref. 6; AAK83024).	might get lost (downstream of altered splice site)
1103	1103	CONFLICT	P -> Q (in Ref. 3; BAD18725).	might get lost (downstream of altered splice site)
1114	1114	CONFLICT	A -> P (in Ref. 3; BAD18725).	might get lost (downstream of altered splice site)
1115	1123	DNA_BIND	A.T hook.	might get lost (downstream of altered splice site)
1429	1429	CONFLICT	Q -> P (in Ref. 3; BAD18725).	might get lost (downstream of altered splice site)
1435	1436	CONFLICT	GS -> AP (in Ref. 3; BAD18725).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1155 / 1155

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

385 / 385

position of stopcodon in wt / mu cDNA

1155 / 1155

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

1 / 1

chromosome

strand

-1

last intron/exon boundary

903

theoretical NMD boundary in CDS

852

length of CDS

1155

coding sequence (CDS) position

742

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

742

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

52713

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

117103973

original gDNA sequence snippet

CCACCACGAGGAGAAAAGCATCTTCAACTCCCAGCCCCAAG

altered gDNA sequence snippet

CCACCACGAGGAGAAAAGCACCTTCAACTCCCAGCCCCAAG

original cDNA sequence snippet

CCACCACGAGGAGAAAAGCATCTTCAACTCCCAGCCCCAAG

altered cDNA sequence snippet

CCACCACGAGGAGAAAAGCACCTTCAACTCCCAGCCCCAAG

wildtype AA sequence

MSAGGGTRGY SPRSPGATSQ AICELQEEVS RLRLRLEDSL HQPLQGSPTR PASAFDRPAR
TRGRPADSPA TWGSHYGSKS TERLPGEPRG EEQIVPPGRQ RARSSSVPRE VLRLSLSSES
ELPSLPLFSE KSKTTKDSPQ AARDGKRGVG SAGWPDRVTF RGQYTGHEYH VLSPKAVPKG
NGTVSCPHCR PIRTQDAGGA VTGDPLGPPP ADTLQCPLCG QVGSPPEADG PGSATSGAEK
ATTRRKASST PSPKQRSKQA GSSPRPPPGL WYLATAPPAP APPAFAYISS VPIMPYPPAA
VYYAPAGPTS AQPAAKWPPT ASPPPARRHR HSIQLDLGDL EELNKALSRA VQAAESVRST
TRQMRSSLSA DLRQAHSLRG SCLF*

mutated AA sequence

MSAGGGTRGY SPRSPGATSQ AICELQEEVS RLRLRLEDSL HQPLQGSPTR PASAFDRPAR
TRGRPADSPA TWGSHYGSKS TERLPGEPRG EEQIVPPGRQ RARSSSVPRE VLRLSLSSES
ELPSLPLFSE KSKTTKDSPQ AARDGKRGVG SAGWPDRVTF RGQYTGHEYH VLSPKAVPKG
NGTVSCPHCR PIRTQDAGGA VTGDPLGPPP ADTLQCPLCG QVGSPPEADG PGSATSGAEK
ATTRRKAPST PSPKQRSKQA GSSPRPPPGL WYLATAPPAP APPAFAYISS VPIMPYPPAA
VYYAPAGPTS AQPAAKWPPT ASPPPARRHR HSIQLDLGDL EELNKALSRA VQAAESVRST
TRQMRSSLSA DLRQAHSLRG SCLF*

speed

1.15 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