mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998474 (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

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

ENST00000520777

Genbank transcript ID

NM_001170686

UniProt peptide

Q96AX9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.214T>C
cDNA.259T>C
g.1133T>C

AA changes

F72L 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

start (aa)	end (aa)	feature	details
59	138	DOMAIN	MIB/HERC2 1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3201 / 3201

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

1067 / 1067

position of stopcodon in wt / mu cDNA

3246 / 3246

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

46 / 46

chromosome

strand

last intron/exon boundary

3008

theoretical NMD boundary in CDS

2912

length of CDS

3201

coding sequence (CDS) position

214

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

MAGALRRGRA LGSRPSGPTV SSRRSPQCPV AQEGLGARSR PRVAPRSLAR CGPSSRLMGW
KPSEARGQSQ SFQASGLQPR SLKAARRATG RPDRSRAARP TMDPSAHRSR AAPPNMDPDP
QAGVQVGMRV VRGVDWKWGQ QDGGEGGVGT VVELGRHGSP STPDRTVVVQ WDQGTRTNYR
AGYQGAHDLL LYDNAQIGVR HPNIICDCCK KHGLRGMRWK CRVCLDYDLC TQCYMHNKHE
LAHAFDRYET AHSRPVTLSP RQGLPRIPLR GIFQGAKVVR GPDWEWGSQD GGEGKPGRVV
DIRGWDVETG RSVASVTWAD GTTNVYRVGH KGKVDLKCVG EAAGGFYYKD HLPRLGKPAE
LQRRVSADSQ PFQHGDKVKC LLDTDVLREM QEGHGGWNPR MAETGTVHRI TDRGDVRVQF
NHETRWTFHP GALTKHHSFW VGDVVRVIGD LDTVKRLQAG HGEWTDDMAP ALGRVGKVVK
VFGDGNLRVA VAGQRWTFSP SCLVAYRPEE DANLDVAERA RENKSSLSVA LDKLRAQKSD
PEHPGRLVVE VALGNAARAL DLLRRRPEQV DTKNQGRTAL QVAAYLGQVE LIRLLLQARA
GVDLPDDEGN TALHYAALGN QPEATRVLLS AGCRADAINS TQSTALHVAV QRGFLEVVRA
LCERGCDVNL PDAHSDTPLH SAISAGTGAS GIVEVLTEVP NIDVTATNSQ GFTLLHHASL
KGHALAVRKI LARARQLVDA KKEDGFTALH LAALNNHREV AQILIREGRC DVNVRNRKLQ
SPLHLAVQQA HVGLVPLLVD AGCSVNAEDE EGDTALHVAL QRHQLLPLVA DGAGGDPGPL
QLLSRLQASG LPGSAELTVG AAVACFLALE GADVSYTNHR GRSPLDLAAE GRVLKALQGC
AQRFRERQAG GGAAPGPRQT LGTPNTVTNL HVGAAPGPEA AECLVCSELA LLVLFSPCQH
RTVCEECARR MKKCIRCQVV VSKKLRPDGS EVASAAPAPG PPRQLVEELQ SRYRQMEERI
TCPICIDSHI RLVFQCGHGA CAPCGSALSA CPICRQPIRD RIQIFV*

mutated AA sequence

MAGALRRGRA LGSRPSGPTV SSRRSPQCPV AQEGLGARSR PRVAPRSLAR CGPSSRLMGW
KPSEARGQSQ SLQASGLQPR SLKAARRATG RPDRSRAARP TMDPSAHRSR AAPPNMDPDP
QAGVQVGMRV VRGVDWKWGQ QDGGEGGVGT VVELGRHGSP STPDRTVVVQ WDQGTRTNYR
AGYQGAHDLL LYDNAQIGVR HPNIICDCCK KHGLRGMRWK CRVCLDYDLC TQCYMHNKHE
LAHAFDRYET AHSRPVTLSP RQGLPRIPLR GIFQGAKVVR GPDWEWGSQD GGEGKPGRVV
DIRGWDVETG RSVASVTWAD GTTNVYRVGH KGKVDLKCVG EAAGGFYYKD HLPRLGKPAE
LQRRVSADSQ PFQHGDKVKC LLDTDVLREM QEGHGGWNPR MAETGTVHRI TDRGDVRVQF
NHETRWTFHP GALTKHHSFW VGDVVRVIGD LDTVKRLQAG HGEWTDDMAP ALGRVGKVVK
VFGDGNLRVA VAGQRWTFSP SCLVAYRPEE DANLDVAERA RENKSSLSVA LDKLRAQKSD
PEHPGRLVVE VALGNAARAL DLLRRRPEQV DTKNQGRTAL QVAAYLGQVE LIRLLLQARA
GVDLPDDEGN TALHYAALGN QPEATRVLLS AGCRADAINS TQSTALHVAV QRGFLEVVRA
LCERGCDVNL PDAHSDTPLH SAISAGTGAS GIVEVLTEVP NIDVTATNSQ GFTLLHHASL
KGHALAVRKI LARARQLVDA KKEDGFTALH LAALNNHREV AQILIREGRC DVNVRNRKLQ
SPLHLAVQQA HVGLVPLLVD AGCSVNAEDE EGDTALHVAL QRHQLLPLVA DGAGGDPGPL
QLLSRLQASG LPGSAELTVG AAVACFLALE GADVSYTNHR GRSPLDLAAE GRVLKALQGC
AQRFRERQAG GGAAPGPRQT LGTPNTVTNL HVGAAPGPEA AECLVCSELA LLVLFSPCQH
RTVCEECARR MKKCIRCQVV VSKKLRPDGS EVASAAPAPG PPRQLVEELQ SRYRQMEERI
TCPICIDSHI RLVFQCGHGA CAPCGSALSA CPICRQPIRD RIQIFV*

speed

0.99 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