mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999388203535456 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr7:102743893C>TN/A show variant in all transcripts IGV

HGNC symbol

NAPEPLD

Ensembl transcript ID

ENST00000455523

Genbank transcript ID

N/A

UniProt peptide

Q6IQ20

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1384G>A
cDNA.1463G>A
g.46115G>A

AA changes

D462N Score: 23 explain score(s)

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

462

frameshift

known variant

Reference ID: rs3181009

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1988	349	2337
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.851	0.696
	0.58	0.334
(flanking)	-1.286	0.009

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 gained	46115	0.47	mu: ATAATAATGATGAAA	AATA\|atga
Donor gained	46117	0.33	mu: AATAATGATGAAAAC	TAAT\|gatg

distance from splice site

109

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

462

mutated

all conserved

462

Ptroglodytes

all identical

ENSPTRG00000019547

389

Mmulatta

all identical

ENSMMUG00000004236

389

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000044968

389

Ggallus

all conserved

ENSGALG00000008285

459

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000009252

410

Dmelanogaster

no homologue

Celegans

no alignment

Y37E11AR.4

n/a

Xtropicalis

all identical

ENSXETG00000019745

409

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1401 / 1401

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

467 / 467

position of stopcodon in wt / mu cDNA

1480 / 1480

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

80 / 80

chromosome

strand

-1

last intron/exon boundary

1355

theoretical NMD boundary in CDS

1225

length of CDS

1401

coding sequence (CDS) position

1384

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

1463

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

46115

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

102743893

original gDNA sequence snippet

AATCAAGATACCTAAATAATGATGATGAAAACTTTTAATAA

altered gDNA sequence snippet

AATCAAGATACCTAAATAATAATGATGAAAACTTTTAATAA

original cDNA sequence snippet

AATCAAGATACCTAAATAATGATGATGAAAACTTTTAATAA

altered cDNA sequence snippet

AATCAAGATACCTAAATAATAATGATGAAAACTTTTAATAA

wildtype AA sequence

MARRRELKRC LQLLASSAEP ARRARVRKNP SACRGRPSRY AAALCAGTLW PEAAELRRRA
LPATPSASSS PKDMDENESN QSLMTSSQYP KEAVRKRQNS ARNSGASDSS RFSRKSFKLD
YRLEEDVTKS KKGKDGRFVN PWPTWKNPSI PNVLRWLIME KDHSSVPSSK EELDKELPVL
KPYFITNPEE AGVREAGLRV TWLGHATVMV EMDELIFLTD PIFSSRASPS QYMGPKRFRR
SPCTISELPP IDAVLISHNH YDHLDYNSVI ALNERFGNEL RWFVPLGLLD WMQKCGCENV
IELDWWEENC VPGHDKVTFV FTPSQHWCKR TLMDDNKVLW GSWSVLGPWN RFFFAGDTGY
CPAFEEIGKR FGPFDLAAIP IGAYEPRWFM KYQHVDPEEA VRIHTDVQTK KSMAIHWGTF
ALANEHYLEP PVKLNEALER YGLNAEDFFV LKHGESRYLN NDDENF*

mutated AA sequence

speed

0.24 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