mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.0870054914945567 (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)

chr17:4797305G>AN/A show variant in all transcripts IGV

HGNC symbol

MINK1

Ensembl transcript ID

ENST00000347992

Genbank transcript ID

NM_170663

UniProt peptide

Q8N4C8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2500G>A
cDNA.2684G>A
g.60623G>A

AA changes

V834I Score: 29 explain score(s)

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

834

frameshift

known variant

Reference ID: rs2302319

database	homozygous (A/A)	heterozygous	allele carriers
1000G	200	645	845
ExAC	2047	11275	13322

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.015	0.498
	1.639	0.964
(flanking)	2.659	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
Donor marginally increased	60616	wt: 0.8408 / mu: 0.8410 (marginal change - not scored)	wt: GATACAGACAGCGTC mu: GATACAGACAGCATC	TACA\|gaca
Donor increased	60620	wt: 0.38 / mu: 0.46	wt: CAGACAGCGTCAGCA mu: CAGACAGCATCAGCA	GACA\|gcgt

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

834

mutated

all conserved

834

Ptroglodytes

all identical

ENSPTRG00000008611

863

Mmulatta

all identical

ENSMMUG00000002404

845

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000020827

876

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000016332

867

Drerio

all identical

ENSDARG00000035360

821

Dmelanogaster

not conserved

FBgn0010909

986

SVLP

Celegans

no alignment

ZC504.4

n/a

Xtropicalis

all conserved

ENSXETG00000032292

806

protein features

start (aa)	end (aa)	feature	details
866	1332	REGION	Mediates interaction with RAP2A.	might get lost (downstream of altered splice site)
906	906	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
916	916	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
993	993	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)
1019	1306	DOMAIN	CNH.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3912 / 3912

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

1304 / 1304

position of stopcodon in wt / mu cDNA

4096 / 4096

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

185 / 185

chromosome

strand

last intron/exon boundary

4013

theoretical NMD boundary in CDS

3778

length of CDS

3912

coding sequence (CDS) position

2500

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

2684

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

60623

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

4797305

original gDNA sequence snippet

GCGATGGGGATACAGACAGCGTCAGCACCATGGTGGTCCAC

altered gDNA sequence snippet

GCGATGGGGATACAGACAGCATCAGCACCATGGTGGTCCAC

original cDNA sequence snippet

GCGATGGGGATACAGACAGCGTCAGCACCATGGTGGTCCAC

altered cDNA sequence snippet

GCGATGGGGATACAGACAGCATCAGCACCATGGTGGTCCAC

wildtype AA sequence

MGDPAPARSL DDIDLSALRD PAGIFELVEV VGNGTYGQVY KGRHVKTGQL AAIKVMDVTE
DEEEEIKQEI NMLKKYSHHR NIATYYGAFI KKSPPGNDDQ LWLVMEFCGA GSVTDLVKNT
KGNALKEDCI AYICREILRG LAHLHAHKVI HRDIKGQNVL LTENAEVKLV DFGVSAQLDR
TVGRRNTFIG TPYWMAPEVI ACDENPDATY DYRSDIWSLG ITAIEMAEGA PPLCDMHPMR
ALFLIPRNPP PRLKSKKWSK KFIDFIDTCL IKTYLSRPPT EQLLKFPFIR DQPTERQVRI
QLKDHIDRSR KKRGEKEETE YEYSGSEEED DSHGEEGEPS SIMNVPGEST LRREFLRLQQ
ENKSNSEALK QQQQLQQQQQ RDPEAHIKHL LHQRQRRIEE QKEERRRVEE QQRREREQRK
LQEKEQQRRL EDMQALRREE ERRQAEREQE YKRKQLEEQR QSERLQRQLQ QEHAYLKSLQ
QQQQQQQLQK QQQQQLLPGD RKPLYHYGRG MNPADKPAWA REVEERTRMN KQQNSPLAKS
KPGSTGPEPP IPQASPGPPG PLSQTPPMQR PVEPQEGPHK SLVAHRVPLK PYAAPVPRSQ
SLQDQPTRNL AAFPASHDPD PAIPAPTATP SARGAVIRQN SDPTSEGPGP SPNPPAWVRP
DNEAPPKVPQ RTSSIATALN TSGAGGSRPA QAVRASNPDL RRSDPGWERS DSVLPASHGH
LPQAGSLERN RVGVSSKPDS SPVLSPGNKA KPDDHRSRPG RPASYKRAIG EDFVLLKERT
LDEAPRPPKK AMDYSSSSEE VESSEDDEEE GEGGPAEGSR DTPGGRSDGD TDSVSTMVVH
DVEEITGTQP PYGGGTMVVQ RTPEEERNLL HADSNGYTNL PDVVQPSHSP TENSKGQSPP
SKDGSGDYQS RGLVKAPGKS SFTMFVDLGI YQPGGSGDSI PITALVGGEG TRLDQLQYDV
RKGSVVNVNP TNTRAHSETP EIRKYKKRFN SEILCAALWG VNLLVGTENG LMLLDRSGQG
KVYGLIGRRR FQQMDVLEGL NLLITISGKR NKLRVYYLSW LRNKILHNDP EVEKKQGWTT
VGDMEGCGHY RVVKYERIKF LVIALKSSVE VYAWAPKPYH KFMAFKSFAD LPHRPLLVDL
TVEEGQRLKV IYGSSAGFHA VDVDSGNSYD IYIPVHIQSQ ITPHAIIFLP NTDGMEMLLC
YEDEGVYVNT YGRIIKDVVL QWGEMPTSVA YICSNQIMGW GEKAIEIRSV ETGHLDGVFM
HKRAQRLKFL CERNDKVFFA SVRSGGSSQV YFMTLNRNCI MNW*

mutated AA sequence

MGDPAPARSL DDIDLSALRD PAGIFELVEV VGNGTYGQVY KGRHVKTGQL AAIKVMDVTE
DEEEEIKQEI NMLKKYSHHR NIATYYGAFI KKSPPGNDDQ LWLVMEFCGA GSVTDLVKNT
KGNALKEDCI AYICREILRG LAHLHAHKVI HRDIKGQNVL LTENAEVKLV DFGVSAQLDR
TVGRRNTFIG TPYWMAPEVI ACDENPDATY DYRSDIWSLG ITAIEMAEGA PPLCDMHPMR
ALFLIPRNPP PRLKSKKWSK KFIDFIDTCL IKTYLSRPPT EQLLKFPFIR DQPTERQVRI
QLKDHIDRSR KKRGEKEETE YEYSGSEEED DSHGEEGEPS SIMNVPGEST LRREFLRLQQ
ENKSNSEALK QQQQLQQQQQ RDPEAHIKHL LHQRQRRIEE QKEERRRVEE QQRREREQRK
LQEKEQQRRL EDMQALRREE ERRQAEREQE YKRKQLEEQR QSERLQRQLQ QEHAYLKSLQ
QQQQQQQLQK QQQQQLLPGD RKPLYHYGRG MNPADKPAWA REVEERTRMN KQQNSPLAKS
KPGSTGPEPP IPQASPGPPG PLSQTPPMQR PVEPQEGPHK SLVAHRVPLK PYAAPVPRSQ
SLQDQPTRNL AAFPASHDPD PAIPAPTATP SARGAVIRQN SDPTSEGPGP SPNPPAWVRP
DNEAPPKVPQ RTSSIATALN TSGAGGSRPA QAVRASNPDL RRSDPGWERS DSVLPASHGH
LPQAGSLERN RVGVSSKPDS SPVLSPGNKA KPDDHRSRPG RPASYKRAIG EDFVLLKERT
LDEAPRPPKK AMDYSSSSEE VESSEDDEEE GEGGPAEGSR DTPGGRSDGD TDSISTMVVH
DVEEITGTQP PYGGGTMVVQ RTPEEERNLL HADSNGYTNL PDVVQPSHSP TENSKGQSPP
SKDGSGDYQS RGLVKAPGKS SFTMFVDLGI YQPGGSGDSI PITALVGGEG TRLDQLQYDV
RKGSVVNVNP TNTRAHSETP EIRKYKKRFN SEILCAALWG VNLLVGTENG LMLLDRSGQG
KVYGLIGRRR FQQMDVLEGL NLLITISGKR NKLRVYYLSW LRNKILHNDP EVEKKQGWTT
VGDMEGCGHY RVVKYERIKF LVIALKSSVE VYAWAPKPYH KFMAFKSFAD LPHRPLLVDL
TVEEGQRLKV IYGSSAGFHA VDVDSGNSYD IYIPVHIQSQ ITPHAIIFLP NTDGMEMLLC
YEDEGVYVNT YGRIIKDVVL QWGEMPTSVA YICSNQIMGW GEKAIEIRSV ETGHLDGVFM
HKRAQRLKFL CERNDKVFFA SVRSGGSSQV YFMTLNRNCI MNW*

speed

1.06 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