mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM000497)
known disease mutation: rs5420 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:39200926A>GN/A show variant in all transcripts IGV

HGNC symbol

ACTN4

Ensembl transcript ID

ENST00000390009

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.62638A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs121908415
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs5420 (pathogenic for Focal segmental glomerulosclerosis 1) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM000497)

known disease mutation at this position, please check HGMD for details (HGMD ID CM000497)
known disease mutation at this position, please check HGMD for details (HGMD ID CM000497)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.523	1
	4.573	1
(flanking)	3.048	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

4183

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

9 / 9

chromosome

strand

last intron/exon boundary

1929

theoretical NMD boundary in CDS

1870

length of CDS

2079

coding sequence (CDS) position

N/A

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

N/A

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

62638

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

39200926

original gDNA sequence snippet

ACACGGCCCGGCCCGACGAGAAGGCCATAATGACCTATGTG

altered gDNA sequence snippet

ACACGGCCCGGCCCGACGAGGAGGCCATAATGACCTATGTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVDYHAANQS YQYGPSSAGN GAGGGGSMGD YMAQEDDWDR DLLLDPAWEK QQRKAETAAN
RICKVLAVNQ ENEHLMEDYE KLASDLLEWI RRTIPWLEDR VPQKTIQEMQ QKLEDFRDYR
RVHKPPKVQE KCQLEINFNT LQTKLRLSNR PAFMPSEGKM VSDINNGWQH LEQAEKGYEE
WLLNEIRRLE RLDHLAEKFR QKASIHEAWT DGKEAMLKHR DYETATLSDI KALIRKHEAF
ESDLAAHQDR VEQIAAIAQE LNELDYYDSH NVNTRCQKIC DQWDALGSLT HSRREALEKT
EKQLEAIDQL HLEYAKRAAP FNNWMESAME DLQDMFIVHT IEEIEGLISA HDQFKSTLPD
ADREREAILA IHKEAQRIAE SNHIKLSGSN PYTTVTPQII NSKWEKVQQL VPKRDHALLE
EQSKQQSNEH LRRQFASQAN VVGPWIQTKM EEIGRISIEM NGTLEDQLSH LKQYERSIVD
YKPNLDLLEQ QHQLIQEALI FDNKHTNYTM EHIRVGWEQL LTTIARTINE VENQILTRDA
KGISQEQMQE FRASFNHFDK DHGGALGPEE FKACLISLGY DVENDRQGEA EFNRIMSLVD
PNHSGLVTFQ AFIDFMSRET TDTDTADQVI ASFKVLAGDK NFITAEELRR ELPPDQAEYC
IARMAPYQGP DAVPGALDYK SFSTALYGES DL*

mutated AA sequence

N/A

speed

0.41 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