mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999995065204045 (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

ENST00000389868

Genbank transcript ID

N/A

UniProt peptide

Q8N4C6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3661C>G
cDNA.3852C>G
g.95529C>G

AA changes

Q1221E Score: 29 explain score(s)

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

1221

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

1221

mutated

all conserved

1221

Ptroglodytes

not conserved

ENSPTRG00000006335

1191

Mmulatta

all identical

ENSMMUG00000014658

1226

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000021068

1185

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000008553

1239

Drerio

all conserved

ENSDARG00000060298

1165

Dmelanogaster

no alignment

FBgn0000228

n/a

Celegans

no alignment

T04F8.6

n/a

Xtropicalis

not conserved

ENSXETG00000016467

1199

protein features

start (aa)	end (aa)	feature	details
1181	1341	COILED	Potential.	lost
1237	1237	CONFLICT	M -> I (in Ref. 1; AAF23015).	might get lost (downstream of altered splice site)
1441	1816	COILED	Potential.	might get lost (downstream of altered splice site)
1550	1550	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1854	1885	COILED	Potential.	might get lost (downstream of altered splice site)
1922	2067	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3831 / 3831

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

1277 / 1277

position of stopcodon in wt / mu cDNA

4022 / 4022

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

4306

theoretical NMD boundary in CDS

4064

length of CDS

3831

coding sequence (CDS) position

3661

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

3852

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 YESEKLQQEN SILRNEITTL NEEDSISNLK LGTLNGSQEE
MWQKTETVKQ ENAAVQKMVE NLKKQISELK IKNQQLDLEN TELSQKNSQN QEKLQELNQR
LTEMLCQKEK EPGNSALEER EQEKFNLKEE LERCKVQSST LVSSLEAELS EVKIQTHIVQ
QENHLLKDEL EKMKQLHRCP DLSDFQQKIS SVLSYNEKLL KEKEALSEEL NSCVDKLAKS
SLLEHRIATM KQEQKSWEHQ SASLKSQLVA SQEKVQNLED TVQNVNLQMS RMKSDLRVTQ
QEKEALKQEV MSLHKQLQNA GGKSWAPEIA THPSGLHNQQ KRLSWDKLDH LMNEEQQLLW
QENERLQTMV QNTKAELTHS REKVRQLESN LLPKHQKHLN PSGTMNPTEQ EKLSLKRECD
QFQKEQSPAN RKVSQMNSLE QELETIHLEN EGLKKKQVKL DEQLMENSVV GSSREGCSSL
PEIVCEDAAP EVHCDA*

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 YESEKLQQEN SILRNEITTL NEEDSISNLK LGTLNGSQEE
MWQKTETVKQ ENAAVQKMVE NLKKQISELK IKNQQLDLEN TELSQKNSQN QEKLQELNQR
LTEMLCQKEK EPGNSALEER EQEKFNLKEE LERCKVQSST LVSSLEAELS EVKIQTHIVQ
QENHLLKDEL EKMKQLHRCP DLSDFQQKIS SVLSYNEKLL KEKEALSEEL NSCVDKLAKS
SLLEHRIATM KQEQKSWEHQ SASLKSQLVA SQEKVQNLED TVQNVNLQMS RMKSDLRVTQ
QEKEALKQEV MSLHKQLQNA GGKSWAPEIA THPSGLHNQQ KRLSWDKLDH LMNEEQQLLW
QENERLQTMV QNTKAELTHS REKVRQLESN LLPKHQKHLN PSGTMNPTEQ EKLSLKRECD
QFQKEQSPAN RKVSQMNSLE EELETIHLEN EGLKKKQVKL DEQLMENSVV GSSREGCSSL
PEIVCEDAAP EVHCDA*

speed

1.02 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