mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999081 (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)

chr1:1551927T>CN/A show variant in all transcripts IGV

HGNC symbol

MIB2

Ensembl transcript ID

ENST00000378710

Genbank transcript ID

N/A

UniProt peptide

Q96AX9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.43T>C
cDNA.259T>C
g.1133T>C

AA changes

F15L Score: 22 explain score(s)

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

frameshift

known variant

Reference ID: rs7418389

database	homozygous (C/C)	heterozygous	allele carriers
1000G	646	1097	1743
ExAC	19576	-6385	13191

regulatory features

Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.441	0.014
	-0.162	0.014
(flanking)	1.538	0.024

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	1130	wt: 0.3049 / mu: 0.3196 (marginal change - not scored)	wt: CCCAAAGTTTCCAGG mu: CCCAAAGTCTCCAGG	CAAA\|gttt
Donor marginally increased	1137	wt: 0.6059 / mu: 0.6477 (marginal change - not scored)	wt: TTTCCAGGCATCAGG mu: TCTCCAGGCATCAGG	TCCA\|ggca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000012961

Fcatus

no homologue

Mmusculus

no alignment

ENSMUSG00000029060

n/a

Ggallus

no alignment

ENSGALG00000001473

n/a

Trubripes

no alignment

ENSTRUG00000005595

n/a

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0086442

n/a

Celegans

no homologue

Xtropicalis

no alignment

ENSXETG00000019608

n/a

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2934 / 2934

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

978 / 978

position of stopcodon in wt / mu cDNA

3150 / 3150

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

217 / 217

chromosome

strand

last intron/exon boundary

2912

theoretical NMD boundary in CDS

2645

length of CDS

2934

coding sequence (CDS) position

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

259

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

1133

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

1551927

original gDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG

altered gDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG

original cDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTTTCCAGGCATCAGGGCTGCAG

altered cDNA sequence snippet

CTAGAGGCCAGTCCCAAAGTCTCCAGGCATCAGGGCTGCAG

wildtype AA sequence

MGWKPSEARG QSQSFQASGL QPRSLKAARR ATGRPDRSRA ARPTMDPSAH RSRAAPPNMD
PDPQAGVQVG MRVVRGVDWK WGQQDGGEGG VGTVVELGRH GSPSTPDRTV VVQWDQGTRT
NYRAGYQGAH DLLLYDNAQI GVRHPNIICD CCKKHGLRGM RWKCRVCLDY DLCTQCYMHN
KHELAHAFDR YETAHSRPVT LSPRQGLPRI PLRGIFQGAK VVRGPDWEWG SQDGGEGKPG
RVVDIRGWDV ETGRSVASVT WADGTTNVYR VGHKGKVDLK CVGEAAGGFY YKDHLPRLGK
PAELQRRVSA DSQPFQHGDK VKCLLDTDVL REMQEGHGGW NPRMAEHHSF WVGDVVRVIG
DLDTVKRLQA GHGEWTDDMA PALGRVGKVV KVFGDGNLRV AVAGQRWTFS PSCLVAYRPE
EDANLDVAER ARENKSSLSV ALDKLRAQKS DPEHPGRLVV EVALGNAARA LDLLRRRPEQ
VDTKNQGRTA LQVAAYLGQV ELIRLLLQAR AGVDLPDDEG NTALHYAALG NQPEATRVLL
SAGCRADAIN STQSTALHVA VQRGFLEVVR ALCERGCDVN LPDAHSDTPL HSAISAGTGA
SGIVEVLTEV PNIDVTATNS QGFTLLHHAS LKGHALAVRK ILARARQLVD AKKEDGFTAL
HLAALNNHRE VAQILIREGR CDVNVRNRKL QSPLHLAVQQ AHVGLVPLLV DAGCSVNAED
EEGDTALHVA LQRHQLLPLV ADGAGGDPGP LQLLSRLQAS GLPGSAELTV GAAVACFLAL
EGADVSYTNH RGRSPLDLAA EGRVLKALQG CAQRFRERQA GGGAAPGPRQ TLGTPNTVTN
LHVGAAPGPE AAECLVCSEL ALLVLFSPCQ HRTVCEECAR RMKKCIRCQV VVSKKLRPDG
SEVASAAPAP GPPRQLVEEL QSRYRQMEER ITCPICIDSH IRLVFQCGHG ACAPCGSALS
ACPICRQPIR DRIQIFV*

mutated AA sequence

MGWKPSEARG QSQSLQASGL QPRSLKAARR ATGRPDRSRA ARPTMDPSAH RSRAAPPNMD
PDPQAGVQVG MRVVRGVDWK WGQQDGGEGG VGTVVELGRH GSPSTPDRTV VVQWDQGTRT
NYRAGYQGAH DLLLYDNAQI GVRHPNIICD CCKKHGLRGM RWKCRVCLDY DLCTQCYMHN
KHELAHAFDR YETAHSRPVT LSPRQGLPRI PLRGIFQGAK VVRGPDWEWG SQDGGEGKPG
RVVDIRGWDV ETGRSVASVT WADGTTNVYR VGHKGKVDLK CVGEAAGGFY YKDHLPRLGK
PAELQRRVSA DSQPFQHGDK VKCLLDTDVL REMQEGHGGW NPRMAEHHSF WVGDVVRVIG
DLDTVKRLQA GHGEWTDDMA PALGRVGKVV KVFGDGNLRV AVAGQRWTFS PSCLVAYRPE
EDANLDVAER ARENKSSLSV ALDKLRAQKS DPEHPGRLVV EVALGNAARA LDLLRRRPEQ
VDTKNQGRTA LQVAAYLGQV ELIRLLLQAR AGVDLPDDEG NTALHYAALG NQPEATRVLL
SAGCRADAIN STQSTALHVA VQRGFLEVVR ALCERGCDVN LPDAHSDTPL HSAISAGTGA
SGIVEVLTEV PNIDVTATNS QGFTLLHHAS LKGHALAVRK ILARARQLVD AKKEDGFTAL
HLAALNNHRE VAQILIREGR CDVNVRNRKL QSPLHLAVQQ AHVGLVPLLV DAGCSVNAED
EEGDTALHVA LQRHQLLPLV ADGAGGDPGP LQLLSRLQAS GLPGSAELTV GAAVACFLAL
EGADVSYTNH RGRSPLDLAA EGRVLKALQG CAQRFRERQA GGGAAPGPRQ TLGTPNTVTN
LHVGAAPGPE AAECLVCSEL ALLVLFSPCQ HRTVCEECAR RMKKCIRCQV VVSKKLRPDG
SEVASAAPAP GPPRQLVEEL QSRYRQMEER ITCPICIDSH IRLVFQCGHG ACAPCGSALS
ACPICRQPIR DRIQIFV*

speed

0.98 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