mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999998769017065 (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)

chr11:6239344G>AN/A show variant in all transcripts IGV

HGNC symbol

FAM160A2

Ensembl transcript ID

ENST00000524416

Genbank transcript ID

N/A

UniProt peptide

Q8N612

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1472C>T
cDNA.1783C>T
g.16598C>T

AA changes

T491M Score: 81 explain score(s)

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

491

frameshift

known variant

Reference ID: rs3750944

database	homozygous (A/A)	heterozygous	allele carriers
1000G	725	1199	1924
ExAC	15606	1555	17161

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.937	1
	0.926	1
(flanking)	1.65	1

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
Acc increased	16600	wt: 0.66 / mu: 0.80	wt: TGGACTCCTCTTCTGTGACGACAGTACCCCGGCCCTCCACA mu: TGGACTCCTCTTCTGTGATGACAGTACCCCGGCCCTCCACA	acga\|CAGT
Acc increased	16594	wt: 0.52 / mu: 0.61	wt: CAAGTGTGGACTCCTCTTCTGTGACGACAGTACCCCGGCCC mu: CAAGTGTGGACTCCTCTTCTGTGATGACAGTACCCCGGCCC	tctg\|TGAC
Acc marginally increased	16597	wt: 0.8150 / mu: 0.8497 (marginal change - not scored)	wt: GTGTGGACTCCTCTTCTGTGACGACAGTACCCCGGCCCTCC mu: GTGTGGACTCCTCTTCTGTGATGACAGTACCCCGGCCCTCC	gtga\|CGAC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

491

mutated

not conserved

491

Ptroglodytes

not conserved

ENSPTRG00000003281

491

Mmulatta

not conserved

ENSMMUG00000016882

493

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000044465

493

Ggallus

no homologue

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000078188

488

Dmelanogaster

no alignment

FBgn0025681

n/a

Celegans

no alignment

C05D11.8

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
503	503	CONFLICT	A -> V (in Ref. 4; CAB66657).	might get lost (downstream of altered splice site)
510	510	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
516	516	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
523	523	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
859	859	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
897	897	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2517 / 2517

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

839 / 839

position of stopcodon in wt / mu cDNA

2828 / 2828

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

312 / 312

chromosome

strand

-1

last intron/exon boundary

1747

theoretical NMD boundary in CDS

1385

length of CDS

2517

coding sequence (CDS) position

1472

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

1783

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

16598

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

6239344

original gDNA sequence snippet

TGTGGACTCCTCTTCTGTGACGACAGTACCCCGGCCCTCCA

altered gDNA sequence snippet

TGTGGACTCCTCTTCTGTGATGACAGTACCCCGGCCCTCCA

original cDNA sequence snippet

TGTGGACTCCTCTTCTGTGACGACAGTACCCCGGCCCTCCA

altered cDNA sequence snippet

TGTGGACTCCTCTTCTGTGATGACAGTACCCCGGCCCTCCA

wildtype AA sequence

MERMNWLSRL ASRGPGHRIP QGANLQTPVM ADPETCLMVF KNHWSQVVRI LERQGPRAAP
GGADDLSAVR NHTYQMLTLL AEDRAVPSAP TGPGPLLEFA LHEDLLTRVL TWQLQWDELG
DGVEERRAEQ LKLFEMLVSE ARQPLLRHGP VREALLTLLD ACGRPVPSSP ALDEGLVLLL
SQLCVCVAQE PSLLEFFLQP PPEPGAAPRL LLFSRLVPFV HREGTLGQQA RDALLLLMAL
SAGSPTVGRY IADHSYFCPV LATGLSALYS SLPRKIEVPG DDWHCLRRED WLGVPALALF
MSSLEFCNAV IQVAHPLVQK QLVDYIHNGF LVPVMGPALH KTSVEEMIAS TAYLELFLRS
ISEPALLRTF LRFLLLHRHD THTILDTLVA RIGSNSRLCM VSLSLFRTLL NLSCEDVLLQ
LVLRYLVPCN HVMLSQKPAV RDVDLYGRAA DKFLSLIPRC CRHHAPSPPR PEHASWARGP
GSPSVDSSSV TTVPRPSTPS RLALFLRQQS LGGSESPGPA PCSPGLSASP ASSPGRRPTP
AEEPGELEDN YLEYLREARR GVDRCVRACR TWSAPYDGER PSPEPSPFGS RTKKRSLLPE
EDRNNVGEGE EEELGRRGRA GGAGEGPGHL PPPQLNGVPG SWPEGAKKVR LVPKEGAGEL
LEGISEGMAG LEGFGQELRE LEVALSNGGT GSESPLEPPL PLEEEEAYES FTCPPEPPGP
FLSSPLRTLN QLPSQPFTGK LLSLGLPFCV LFACSRHVCA GFLDLLAMSF LCTCLAPHPS
CLHHFQIRVM SYLCPCVCLY VFHACAGLSI DLHLSLVCMS YVHVPPLSLV WPFPAICN*

mutated AA sequence

MERMNWLSRL ASRGPGHRIP QGANLQTPVM ADPETCLMVF KNHWSQVVRI LERQGPRAAP
GGADDLSAVR NHTYQMLTLL AEDRAVPSAP TGPGPLLEFA LHEDLLTRVL TWQLQWDELG
DGVEERRAEQ LKLFEMLVSE ARQPLLRHGP VREALLTLLD ACGRPVPSSP ALDEGLVLLL
SQLCVCVAQE PSLLEFFLQP PPEPGAAPRL LLFSRLVPFV HREGTLGQQA RDALLLLMAL
SAGSPTVGRY IADHSYFCPV LATGLSALYS SLPRKIEVPG DDWHCLRRED WLGVPALALF
MSSLEFCNAV IQVAHPLVQK QLVDYIHNGF LVPVMGPALH KTSVEEMIAS TAYLELFLRS
ISEPALLRTF LRFLLLHRHD THTILDTLVA RIGSNSRLCM VSLSLFRTLL NLSCEDVLLQ
LVLRYLVPCN HVMLSQKPAV RDVDLYGRAA DKFLSLIPRC CRHHAPSPPR PEHASWARGP
GSPSVDSSSV MTVPRPSTPS RLALFLRQQS LGGSESPGPA PCSPGLSASP ASSPGRRPTP
AEEPGELEDN YLEYLREARR GVDRCVRACR TWSAPYDGER PSPEPSPFGS RTKKRSLLPE
EDRNNVGEGE EEELGRRGRA GGAGEGPGHL PPPQLNGVPG SWPEGAKKVR LVPKEGAGEL
LEGISEGMAG LEGFGQELRE LEVALSNGGT GSESPLEPPL PLEEEEAYES FTCPPEPPGP
FLSSPLRTLN QLPSQPFTGK LLSLGLPFCV LFACSRHVCA GFLDLLAMSF LCTCLAPHPS
CLHHFQIRVM SYLCPCVCLY VFHACAGLSI DLHLSLVCMS YVHVPPLSLV WPFPAICN*

speed

0.43 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