mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.00475641343750024 (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

ENST00000355280

Genbank transcript ID

NM_153827

UniProt peptide

Q8N4C8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2587G>A
cDNA.2783G>A
g.60623G>A

AA changes

V863I Score: 29 explain score(s)

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

863

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

863

mutated

all conserved

863

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

838

PILMLTYKGSLCVCSYNYSGYCHNNLIESN

Drerio

all identical

ENSDARG00000035360

822

Dmelanogaster

not conserved

FBgn0010909

1001

SVLP

Celegans

all identical

ZC504.4

588

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

3999 / 3999

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

1333 / 1333

position of stopcodon in wt / mu cDNA

4195 / 4195

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

197 / 197

chromosome

strand

last intron/exon boundary

4112

theoretical NMD boundary in CDS

3865

length of CDS

3999

coding sequence (CDS) position

2587

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

2783

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 QAVRARPRSN SAWQIYLQRR AERGTPKPPG
PPAQPPGPPN ASSNPDLRRS DPGWERSDSV LPASHGHLPQ AGSLERNRVG VSSKPDSSPV
LSPGNKAKPD DHRSRPGRPA DFVLLKERTL DEAPRPPKKA MDYSSSSEEV ESSEDDEEEG
EGGPAEGSRD TPGGRSDGDT DSVSTMVVHD VEEITGTQPP YGGGTMVVQR TPEEERNLLH
ADSNGYTNLP DVVQPSHSPT ENSKGQSPPS KDGSGDYQSR GLVKAPGKSS FTMFVDLGIY
QPGGSGDSIP ITALVGGEGT RLDQLQYDVR KGSVVNVNPT NTRAHSETPE IRKYKKRFNS
EILCAALWGV NLLVGTENGL MLLDRSGQGK VYGLIGRRRF QQMDVLEGLN LLITISGKRN
KLRVYYLSWL RNKILHNDPE VEKKQGWTTV GDMEGCGHYR VVKYERIKFL VIALKSSVEV
YAWAPKPYHK FMAFKSFADL PHRPLLVDLT VEEGQRLKVI YGSSAGFHAV DVDSGNSYDI
YIPVHIQSQI TPHAIIFLPN TDGMEMLLCY EDEGVYVNTY GRIIKDVVLQ WGEMPTSVAY
ICSNQIMGWG EKAIEIRSVE TGHLDGVFMH KRAQRLKFLC ERNDKVFFAS VRSGGSSQVY
FMTLNRNCIM NW*

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 QAVRARPRSN SAWQIYLQRR AERGTPKPPG
PPAQPPGPPN ASSNPDLRRS DPGWERSDSV LPASHGHLPQ AGSLERNRVG VSSKPDSSPV
LSPGNKAKPD DHRSRPGRPA DFVLLKERTL DEAPRPPKKA MDYSSSSEEV ESSEDDEEEG
EGGPAEGSRD TPGGRSDGDT DSISTMVVHD VEEITGTQPP YGGGTMVVQR TPEEERNLLH
ADSNGYTNLP DVVQPSHSPT ENSKGQSPPS KDGSGDYQSR GLVKAPGKSS FTMFVDLGIY
QPGGSGDSIP ITALVGGEGT RLDQLQYDVR KGSVVNVNPT NTRAHSETPE IRKYKKRFNS
EILCAALWGV NLLVGTENGL MLLDRSGQGK VYGLIGRRRF QQMDVLEGLN LLITISGKRN
KLRVYYLSWL RNKILHNDPE VEKKQGWTTV GDMEGCGHYR VVKYERIKFL VIALKSSVEV
YAWAPKPYHK FMAFKSFADL PHRPLLVDLT VEEGQRLKVI YGSSAGFHAV DVDSGNSYDI
YIPVHIQSQI TPHAIIFLPN TDGMEMLLCY EDEGVYVNTY GRIIKDVVLQ WGEMPTSVAY
ICSNQIMGWG EKAIEIRSVE TGHLDGVFMH KRAQRLKFLC ERNDKVFFAS VRSGGSSQVY
FMTLNRNCIM NW*

speed

0.14 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