Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999861138078 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM000497)
  • known disease mutation: rs5420 (pathogenic)
  • protein features (might be) affected
 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 ENST00000252699
Genbank transcript ID NM_004924
UniProt peptide O43707
alteration type single base exchange
alteration region CDS
DNA changes c.763A>G
cDNA.839A>G
g.62638A>G
AA changes K255E Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 255
frameshift no
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
PhyloPPhastCons
(flanking)5.5231
4.5731
(flanking)3.0481
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 30
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      255EDIVNTARPDEKAIMTYVSSFYHA
mutated  all conserved    255EDIVNTARPDEEAIMTYVSSFYH
Ptroglodytes  all identical  ENSPTRG00000010935  255EDIVNTARPDEKAIMTYVSSFYH
Mmulatta  all identical  ENSMMUG00000006429  255EDIVNTARPDEKAIMTYVSSFYH
Fcatus  all identical  ENSFCAG00000000832  201EDIVNTARPDEKAIMTYVSSFYH
Mmusculus  all identical  ENSMUSG00000054808  256EDIVNTARPDEKAIMTYVSSFYH
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000009876  236EDIVNTARPDEKAIMT
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000000040  202EDIVNTARPDEKAIMTYVSSFYH
protein features
start (aa)end (aa)featuredetails 
1269DOMAINActin-binding.lost
163269DOMAINCH 2.lost
254267HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2736 / 2736
position (AA) of stopcodon in wt / mu AA sequence 912 / 912
position of stopcodon in wt / mu cDNA 2812 / 2812
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 77 / 77
chromosome 19
strand 1
last intron/exon boundary 2654
theoretical NMD boundary in CDS 2527
length of CDS 2736
coding sequence (CDS) position 763
cDNA position
(for ins/del: last normal base / first normal base)		 839
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 ACACGGCCCGGCCCGACGAGAAGGCCATAATGACCTATGTG
altered cDNA sequence snippet ACACGGCCCGGCCCGACGAGGAGGCCATAATGACCTATGTG
wildtype AA sequence MVDYHAANQS YQYGPSSAGN GAGGGGSMGD YMAQEDDWDR DLLLDPAWEK QQRKTFTAWC
NSHLRKAGTQ IENIDEDFRD GLKLMLLLEV ISGERLPKPE RGKMRVHKIN NVNKALDFIA
SKGVKLVSIG AEEIVDGNAK MTLGMIWTII LRFAIQDISV EETSAKEGLL LWCQRKTAPY
KNVNVQNFHI SWKDGLAFNA LIHRHRPELI EYDKLRKDDP VTNLNNAFEV AEKYLDIPKM
LDAEDIVNTA RPDEKAIMTY VSSFYHAFSG AQKAETAANR ICKVLAVNQE NEHLMEDYEK
LASDLLEWIR RTIPWLEDRV PQKTIQEMQQ KLEDFRDYRR VHKPPKVQEK CQLEINFNTL
QTKLRLSNRP AFMPSEGKMV SDINNGWQHL EQAEKGYEEW LLNEIRRLER LDHLAEKFRQ
KASIHEAWTD GKEAMLKHRD YETATLSDIK ALIRKHEAFE SDLAAHQDRV EQIAAIAQEL
NELDYYDSHN VNTRCQKICD QWDALGSLTH SRREALEKTE KQLEAIDQLH LEYAKRAAPF
NNWMESAMED LQDMFIVHTI EEIEGLISAH DQFKSTLPDA DREREAILAI HKEAQRIAES
NHIKLSGSNP YTTVTPQIIN SKWEKVQQLV PKRDHALLEE QSKQQSNEHL RRQFASQANV
VGPWIQTKME EIGRISIEMN GTLEDQLSHL KQYERSIVDY KPNLDLLEQQ HQLIQEALIF
DNKHTNYTME HIRVGWEQLL TTIARTINEV ENQILTRDAK GISQEQMQEF RASFNHFDKD
HGGALGPEEF KACLISLGYD VENDRQGEAE FNRIMSLVDP NHSGLVTFQA FIDFMSRETT
DTDTADQVIA SFKVLAGDKN FITAEELRRE LPPDQAEYCI ARMAPYQGPD AVPGALDYKS
FSTALYGESD L*
mutated AA sequence MVDYHAANQS YQYGPSSAGN GAGGGGSMGD YMAQEDDWDR DLLLDPAWEK QQRKTFTAWC
NSHLRKAGTQ IENIDEDFRD GLKLMLLLEV ISGERLPKPE RGKMRVHKIN NVNKALDFIA
SKGVKLVSIG AEEIVDGNAK MTLGMIWTII LRFAIQDISV EETSAKEGLL LWCQRKTAPY
KNVNVQNFHI SWKDGLAFNA LIHRHRPELI EYDKLRKDDP VTNLNNAFEV AEKYLDIPKM
LDAEDIVNTA RPDEEAIMTY VSSFYHAFSG AQKAETAANR ICKVLAVNQE NEHLMEDYEK
LASDLLEWIR RTIPWLEDRV PQKTIQEMQQ KLEDFRDYRR VHKPPKVQEK CQLEINFNTL
QTKLRLSNRP AFMPSEGKMV SDINNGWQHL EQAEKGYEEW LLNEIRRLER LDHLAEKFRQ
KASIHEAWTD GKEAMLKHRD YETATLSDIK ALIRKHEAFE SDLAAHQDRV EQIAAIAQEL
NELDYYDSHN VNTRCQKICD QWDALGSLTH SRREALEKTE KQLEAIDQLH LEYAKRAAPF
NNWMESAMED LQDMFIVHTI EEIEGLISAH DQFKSTLPDA DREREAILAI HKEAQRIAES
NHIKLSGSNP YTTVTPQIIN SKWEKVQQLV PKRDHALLEE QSKQQSNEHL RRQFASQANV
VGPWIQTKME EIGRISIEMN GTLEDQLSHL KQYERSIVDY KPNLDLLEQQ HQLIQEALIF
DNKHTNYTME HIRVGWEQLL TTIARTINEV ENQILTRDAK GISQEQMQEF RASFNHFDKD
HGGALGPEEF KACLISLGYD VENDRQGEAE FNRIMSLVDP NHSGLVTFQA FIDFMSRETT
DTDTADQVIA SFKVLAGDKN FITAEELRRE LPPDQAEYCI ARMAPYQGPD AVPGALDYKS
FSTALYGESD L*
speed 0.45 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