mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999642604354251 (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)

chr14:51202311G>CN/A show variant in all transcripts IGV

HGNC symbol

NIN

Ensembl transcript ID

ENST00000324330

Genbank transcript ID

N/A

UniProt peptide

Q8N4C6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.5800C>G
cDNA.5991C>G
g.95529C>G

AA changes

Q1934E Score: 29 explain score(s)

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

1934

frameshift

known variant

Reference ID: rs2295847

database	homozygous (C/C)	heterozygous	allele carriers
1000G	197	574	771
ExAC	2225	13554	15779

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.239	0.999
	1.802	1
(flanking)	1.338	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 increased	95529	wt: 0.27 / mu: 0.35	wt: TTGAACAAGAATTAG mu: TTGAAGAAGAATTAG	GAAC\|aaga
Donor marginally increased	95526	wt: 0.7615 / mu: 0.7686 (marginal change - not scored)	wt: CCCTTGAACAAGAAT mu: CCCTTGAAGAAGAAT	CTTG\|aaca
Donor gained	95523	0.95	mu: ATTCCCTTGAAGAAG	TCCC\|ttga
Donor gained	95528	0.61	mu: CTTGAAGAAGAATTA	TGAA\|gaag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1934

mutated

all conserved

1934

Ptroglodytes

all identical

ENSPTRG00000006335

1940

Mmulatta

all identical

ENSMMUG00000014658

1933

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000021068

1924

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000008553

1234

Drerio

no alignment

ENSDARG00000060298

n/a

Dmelanogaster

not conserved

FBgn0000228

742

Celegans

no alignment

T04F8.6

n/a

Xtropicalis

all conserved

ENSXETG00000016467

1871

protein features

start (aa)	end (aa)	feature	details
1922	2067	COILED	Potential.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

5970 / 5970

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

1990 / 1990

position of stopcodon in wt / mu cDNA

6161 / 6161

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

192 / 192

chromosome

strand

-1

last intron/exon boundary

6331

theoretical NMD boundary in CDS

6089

length of CDS

5970

coding sequence (CDS) position

5800

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

5991

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

95529

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

51202311

original gDNA sequence snippet

GTCAGATGAATTCCCTTGAACAAGAATTAGAAACAATTCAT

altered gDNA sequence snippet

GTCAGATGAATTCCCTTGAAGAAGAATTAGAAACAATTCAT

original cDNA sequence snippet

GTCAGATGAATTCCCTTGAACAAGAATTAGAAACAATTCAT

altered cDNA sequence snippet

GTCAGATGAATTCCCTTGAAGAAGAATTAGAAACAATTCAT

wildtype AA sequence

MDEVEQDQHE ARLKELFDSF DTTGTGSLGQ EELTDLCHML SLEEVAPVLQ QTLLQDNLLG
RVHFDQFKEA LILILSRTLS NEEHFQEPDC SLEAQPKYVR GGKRYGRRSL PEFQESVEEF
PEVTVIEPLD EEARPSHIPA GDCSEHWKTQ RSEEYEAEGQ LRFWNPDDLN ASQSGSSPPQ
DWIEEKLQEV CEDLGITRDG HLNRKKLVSI CEQYGLQNVD GEMLEEVFHN LDPDGTMSVE
DFFYGLFKNG KSLTPSASTP YRQLKRHLSM QSFDESGRRT TTSSAMTSTI GFRVFSCLDD
GMGHASVERI LDTWQEEGIE NSQEILKALD FSLDGNINLT ELTLALENEL LVTKNSIHQA
ALASFKAEIR HLLERVDQVV REKEKLRSDL DKAEKLKSLM ASEVDDHHAA IERRNEYNLR
KLDEEYKERI AALKNELRKE REQILQQAGK QRLELEQEIE KAKTEENYIR DRLALSLKEN
SRLENELLEN AEKLAEYENL TNKLQRNLEN VLAEKFGDLD PSSAEFFLQE ERLTQMRNEY
ERQCRVLQDQ VDELQSELEE YRAQGRVLRL PLKNSPSEEV EANSGGIEPE HGLGSEECNP
LNMSIEAELV IEQMKEQHHR DICCLRLELE DKVRHYEKQL DETVVSCKKA QENMKQRHEN
ETHTLEKQIS DLKNEIAELQ GQAAVLKEAH HEATCRHEEE KKQLQVKLEE EKTHLQEKLR
LQHEMELKAR LTQAQASFER EREGLQSSAW TEEKVRGLTQ ELEQFHQEQL TSLVEKHTLE
KEELRKELLE KHQRELQEGR EKMETECNRR TSQIEAQFQS DCQKVTERCE SALQSLEGRY
RQELKDLQEQ QREEKSQWEF EKDELTQECA EAQELLKETL KREKTTSLVL TQEREMLEKT
YKEHLNSMVV ERQQLLQDLE DLRNVSETQQ SLLSDQILEL KSSHKRELRE REEVLCQAGA
SEQLASQRLE RLEMEHDQER QEMMSKLLAM ENIHKATCET ADRERAEMST EISRLQSKIK
EMQQATSPLS MLQSGCQVIG EEEVEGDGAL SLLQQGEQLL EENGDVLLSL QRAHEQAVKE
NVKMATEISR LQQRLQKLEP GLVMSSCLDE PATEFFGNTA EQTEQFLQQN RTKQVEGVTR
RHVLSDLEDD EVRDLGSTGT SSVQRQEVKI EESEASVEGF SELENSEETR TESWELKNQI
SQLQEQLMML CADCDRASEK KQDLLFDVSV LKKKLKMLER IPEASPKYKL LYEDVSREND
CLQEELRMME TRYDEALENN KELTAEVFRL QDELKKMEEV TETFLSLEKS YDEVKIENEG
LNVLVLRLQG KIEKLQESVV QRCDCCLWEA SLENLEIEPD GNILQLNQTL EECVPRVRSV
HHVIEECKQE NQYLEGNTQL LEKVKAHEIA WLHGTIQTHQ ERPRVQNQVI LEENTTLLGF
QDKHFQHQAT IAELELEKTK LQELTRKLKE RVTILVKQKD VLSHGEKEEE LKAMMHDLQI
TCSEMQQKVE LLRYESEKLQ QENSILRNEI TTLNEEDSIS NLKLGTLNGS QEEMWQKTET
VKQENAAVQK MVENLKKQIS ELKIKNQQLD LENTELSQKN SQNQEKLQEL NQRLTEMLCQ
KEKEPGNSAL EEREQEKFNL KEELERCKVQ SSTLVSSLEA ELSEVKIQTH IVQQENHLLK
DELEKMKQLH RCPDLSDFQQ KISSVLSYNE KLLKEKEALS EELNSCVDKL AKSSLLEHRI
ATMKQEQKSW EHQSASLKSQ LVASQEKVQN LEDTVQNVNL QMSRMKSDLR VTQQEKEALK
QEVMSLHKQL QNAGGKSWAP EIATHPSGLH NQQKRLSWDK LDHLMNEEQQ LLWQENERLQ
TMVQNTKAEL THSREKVRQL ESNLLPKHQK HLNPSGTMNP TEQEKLSLKR ECDQFQKEQS
PANRKVSQMN SLEQELETIH LENEGLKKKQ VKLDEQLMEN SVVGSSREGC SSLPEIVCED
AAPEVHCDA*

mutated AA sequence

MDEVEQDQHE ARLKELFDSF DTTGTGSLGQ EELTDLCHML SLEEVAPVLQ QTLLQDNLLG
RVHFDQFKEA LILILSRTLS NEEHFQEPDC SLEAQPKYVR GGKRYGRRSL PEFQESVEEF
PEVTVIEPLD EEARPSHIPA GDCSEHWKTQ RSEEYEAEGQ LRFWNPDDLN ASQSGSSPPQ
DWIEEKLQEV CEDLGITRDG HLNRKKLVSI CEQYGLQNVD GEMLEEVFHN LDPDGTMSVE
DFFYGLFKNG KSLTPSASTP YRQLKRHLSM QSFDESGRRT TTSSAMTSTI GFRVFSCLDD
GMGHASVERI LDTWQEEGIE NSQEILKALD FSLDGNINLT ELTLALENEL LVTKNSIHQA
ALASFKAEIR HLLERVDQVV REKEKLRSDL DKAEKLKSLM ASEVDDHHAA IERRNEYNLR
KLDEEYKERI AALKNELRKE REQILQQAGK QRLELEQEIE KAKTEENYIR DRLALSLKEN
SRLENELLEN AEKLAEYENL TNKLQRNLEN VLAEKFGDLD PSSAEFFLQE ERLTQMRNEY
ERQCRVLQDQ VDELQSELEE YRAQGRVLRL PLKNSPSEEV EANSGGIEPE HGLGSEECNP
LNMSIEAELV IEQMKEQHHR DICCLRLELE DKVRHYEKQL DETVVSCKKA QENMKQRHEN
ETHTLEKQIS DLKNEIAELQ GQAAVLKEAH HEATCRHEEE KKQLQVKLEE EKTHLQEKLR
LQHEMELKAR LTQAQASFER EREGLQSSAW TEEKVRGLTQ ELEQFHQEQL TSLVEKHTLE
KEELRKELLE KHQRELQEGR EKMETECNRR TSQIEAQFQS DCQKVTERCE SALQSLEGRY
RQELKDLQEQ QREEKSQWEF EKDELTQECA EAQELLKETL KREKTTSLVL TQEREMLEKT
YKEHLNSMVV ERQQLLQDLE DLRNVSETQQ SLLSDQILEL KSSHKRELRE REEVLCQAGA
SEQLASQRLE RLEMEHDQER QEMMSKLLAM ENIHKATCET ADRERAEMST EISRLQSKIK
EMQQATSPLS MLQSGCQVIG EEEVEGDGAL SLLQQGEQLL EENGDVLLSL QRAHEQAVKE
NVKMATEISR LQQRLQKLEP GLVMSSCLDE PATEFFGNTA EQTEQFLQQN RTKQVEGVTR
RHVLSDLEDD EVRDLGSTGT SSVQRQEVKI EESEASVEGF SELENSEETR TESWELKNQI
SQLQEQLMML CADCDRASEK KQDLLFDVSV LKKKLKMLER IPEASPKYKL LYEDVSREND
CLQEELRMME TRYDEALENN KELTAEVFRL QDELKKMEEV TETFLSLEKS YDEVKIENEG
LNVLVLRLQG KIEKLQESVV QRCDCCLWEA SLENLEIEPD GNILQLNQTL EECVPRVRSV
HHVIEECKQE NQYLEGNTQL LEKVKAHEIA WLHGTIQTHQ ERPRVQNQVI LEENTTLLGF
QDKHFQHQAT IAELELEKTK LQELTRKLKE RVTILVKQKD VLSHGEKEEE LKAMMHDLQI
TCSEMQQKVE LLRYESEKLQ QENSILRNEI TTLNEEDSIS NLKLGTLNGS QEEMWQKTET
VKQENAAVQK MVENLKKQIS ELKIKNQQLD LENTELSQKN SQNQEKLQEL NQRLTEMLCQ
KEKEPGNSAL EEREQEKFNL KEELERCKVQ SSTLVSSLEA ELSEVKIQTH IVQQENHLLK
DELEKMKQLH RCPDLSDFQQ KISSVLSYNE KLLKEKEALS EELNSCVDKL AKSSLLEHRI
ATMKQEQKSW EHQSASLKSQ LVASQEKVQN LEDTVQNVNL QMSRMKSDLR VTQQEKEALK
QEVMSLHKQL QNAGGKSWAP EIATHPSGLH NQQKRLSWDK LDHLMNEEQQ LLWQENERLQ
TMVQNTKAEL THSREKVRQL ESNLLPKHQK HLNPSGTMNP TEQEKLSLKR ECDQFQKEQS
PANRKVSQMN SLEEELETIH LENEGLKKKQ VKLDEQLMEN SVVGSSREGC SSLPEIVCED
AAPEVHCDA*

speed

0.76 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