mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999920144253 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr10:26463043A>TN/A show variant in all transcripts IGV

HGNC symbol

MYO3A

Ensembl transcript ID

ENST00000543632

Genbank transcript ID

N/A

UniProt peptide

Q8NEV4

alteration type

single base exchange

alteration region

intron

DNA changes

g.239848A>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs3740231

database	homozygous (T/T)	heterozygous	allele carriers
1000G	380	1146	1526
ExAC	10607	11553	22160

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.887	0
	-0.738	0
(flanking)	0.157	0.001

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	239841	0.52	mu: TCCTTTAAAAAATCT	CTTT\|aaaa

distance from splice site

37729

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
340	1041	DOMAIN	Myosin head-like.	might get lost (downstream of altered splice site)
636	636	CONFLICT	A -> V (in Ref. 1 and 2).	might get lost (downstream of altered splice site)
848	851	CONFLICT	RDTL -> KTLV (in Ref. 2; AAF70861).	might get lost (downstream of altered splice site)
886	890	CONFLICT	TKNVI -> LKML (in Ref. 2; AAF70861).	might get lost (downstream of altered splice site)
1055	1084	DOMAIN	IQ 1.	might get lost (downstream of altered splice site)
1082	1111	DOMAIN	IQ 2.	might get lost (downstream of altered splice site)
1099	1099	CONFLICT	R -> G (in Ref. 1 and 2).	might get lost (downstream of altered splice site)
1217	1217	CONFLICT	S -> F (in Ref. 1 and 2).	might get lost (downstream of altered splice site)
1346	1375	DOMAIN	IQ 3.	might get lost (downstream of altered splice site)
1355	1355	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
1378	1378	CONFLICT	R -> K (in Ref. 1 and 2).	might get lost (downstream of altered splice site)

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

61 / 61

chromosome

strand

last intron/exon boundary

1837

theoretical NMD boundary in CDS

1726

length of CDS

1995

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)

239848

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

26463043

original gDNA sequence snippet

ATGAGACTTCCTTTAAAAAAACTTTGGAACCTACACTTAGC

altered gDNA sequence snippet

ATGAGACTTCCTTTAAAAAATCTTTGGAACCTACACTTAGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MFPLIGKTII FDNFPDPSDT WEITETIGKG TYGKVFKVLN KKNGQKAAVK ILDPIHDIDE
EIEAEYNILK ALSDHPNVVR FYGIYFKKDK VNGDKLWLVL ELCSGGSVTD LVKGFLKRGE
RMSEPLIAYI LHEALMGLQH LHNNKTIHRD VKGNNILLTT EGGVKLVDFG VSAQLTSTRH
RRNTSVGTPF WMAPEVIACE QQLDTTYDAR CDTWSLGITA IELGDGDPPL ADLHPMRALF
KIPRNPPPKL RQPELWSAEF NDFISKCLTK DYEKRPTVSE LLQHKFITQI EGKDVMLQKQ
LTEFIGIHQC MGGTEKARRE RIHTKKGNFN RPLISNLKDV DDLATLEILD ENTVSEQLEK
CYSRDQIYVY VGDILIALNP FQSLGLYSTK HSKLYIGSKR TASPPHIFAM ADLGYQSMIT
YNSDQCIVIS GESGAGKTEN AHLLVQQLTV LGKANNRTLQ EKILQVNNLV EAFGNACTII
NDNSSRFGKY LEMKFTSSGA VVGAQISEYL LEKSRVIHQA IGEKNFHIFY YIYAGLAEKK
KLAHYKLPEN KPPRYLQNDH LRTVQDIMNN SFYKSQYELI EQCFKVIGFT MEVLGGGEPR
EGGGERASSQ PLRLQEAPAQ NLPAPAPRPA VLTVQRGSHR RRKALEPAGQ QGPSRHSGAG
TSRH*

mutated AA sequence

N/A

speed

0.89 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