mutation t@sting

documentation

Prediction

disease causing

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

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM013914)
known disease mutation: rs8306 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr18:32374214C>TN/A show variant in all transcripts IGV

HGNC symbol

DTNA

Ensembl transcript ID

ENST00000348997

Genbank transcript ID

NM_032978

UniProt peptide

Q9Y4J8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.362C>T
cDNA.525C>T
g.300961C>T

AA changes

P121L Score: 98 explain score(s)

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

121

frameshift

known variant

Reference ID: rs104894654

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

known disease mutation: rs8306 (pathogenic for Left ventricular noncompaction 1) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)

known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)
known disease mutation at this position, please check HGMD for details (HGMD ID CM013914)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.564	1
	1.993	1
(flanking)	5.774	1

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	300960	sequence motif lost	-	wt: ATCC\|gtaa mu: ATCT.gtaa
Acc marginally increased	300952	wt: 0.4615 / mu: 0.4882 (marginal change - not scored)	wt: CCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCCT mu: CCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCCT	cagc\|GTTT
Acc increased	300951	wt: 0.42 / mu: 0.47	wt: TCCTTAACTTCCTGCTTGCAGCGTTTGATCCGTAAGCACCC mu: TCCTTAACTTCCTGCTTGCAGCGTTTGATCTGTAAGCACCC	gcag\|CGTT
Donor decreased	300960	wt: 0.72 / mu: 0.23	wt: TTGATCCGTAAGCAC mu: TTGATCTGTAAGCAC	GATC\|cgta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

121

mutated

not conserved

121

Ptroglodytes

all identical

ENSPTRG00000009964

121

Mmulatta

all identical

ENSMMUG00000003302

121

Fcatus

no alignment

ENSFCAG00000011492

n/a

Mmusculus

all identical

ENSMUSG00000024302

121

Ggallus

all identical

ENSGALG00000015211

121

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000031015

121

Dmelanogaster

not conserved

FBgn0033739

112

Celegans

not conserved

F47G6.1

142

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1	288	REGION	Interaction with MAGEE1 (By similarity).	lost
182	182	CONFLICT	F -> L (in Ref. 1; AAC50426 and 2; AAB58541/AAB58542/AAB58543).	might get lost (downstream of altered splice site)
237	284	ZN_FING	ZZ-type.	might get lost (downstream of altered splice site)
244	246	STRAND		might get lost (downstream of altered splice site)
255	260	STRAND		might get lost (downstream of altered splice site)
268	273	HELIX		might get lost (downstream of altered splice site)
278	280	STRAND		might get lost (downstream of altered splice site)
286	289	STRAND		might get lost (downstream of altered splice site)
314	314	CONFLICT	E -> K (in Ref. 1; AAC50430).	might get lost (downstream of altered splice site)
400	450	REGION	Syntrophin-binding region.	might get lost (downstream of altered splice site)
461	556	COILED	Potential.	might get lost (downstream of altered splice site)
558	559	CONFLICT	AG -> GV (in Ref. 1; AAC50431).	might get lost (downstream of altered splice site)
558	561	CONFLICT	AGSP -> SGTH (in Ref. 1; AAC50429).	might get lost (downstream of altered splice site)
565	565	CONFLICT	P -> R (in Ref. 1; AAC50429).	might get lost (downstream of altered splice site)
568	568	CONFLICT	T -> S (in Ref. 1; AAC50429).	might get lost (downstream of altered splice site)
662	662	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
689	689	CONFLICT	T -> S (in Ref. 1; AAC50429).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1704 / 1704

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

568 / 568

position of stopcodon in wt / mu cDNA

1867 / 1867

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

164 / 164

chromosome

strand

last intron/exon boundary

1817

theoretical NMD boundary in CDS

1603

length of CDS

1704

coding sequence (CDS) position

362

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

525

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

300961

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

32374214

original gDNA sequence snippet

CCTGCTTGCAGCGTTTGATCCGTAAGCACCCTCTGAATGTC

altered gDNA sequence snippet

CCTGCTTGCAGCGTTTGATCTGTAAGCACCCTCTGAATGTC

original cDNA sequence snippet

CCTGCTTGCAGCGTTTGATCCGGAAGGCCATGGTAAAATTT

altered cDNA sequence snippet

CCTGCTTGCAGCGTTTGATCTGGAAGGCCATGGTAAAATTT

wildtype AA sequence

MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
PEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVPPRPVT SMNDTLFSHS VPSSGSPFIT
RSSPPKDSEV EQNKLLARAA PAFLKGKGIQ YSLNVADRLA DEHVLIGLYV NMLRNNPSCM
LESSNRLDEE HRLIARYAAR LAAESSSSQP PQQRSAPDIS FTIDANKQQR QLIAELENKN
REILQEIQRL RLEHEQASQP TPEKAQQNPT LLAELRLLRQ RKDELEQRMS ALQESRRELM
VQLEGLMKLL KEEELKQGVS YVPYCRS*

mutated AA sequence

MIEDSGKRGN TMAERRQLFA EMRAQDLDRI RLSTYRTACK LRFVQKKCNL HLVDIWNVIE
ALRENALNNL DPNTELNVSR LEAVLSTIFY QLNKRMPTTH QIHVEQSISL LLNFLLAAFD
LEGHGKISVF AVKMALATLC GGKIMDKLRY IFSMISDSSG VMVYGRYDQF LREVLKLPTA
VFEGPSFGYT EQSARSCFSQ QKKVTLNGFL DTLMSDPPPQ CLVWLPLLHR LANVENVFHP
VECSYCHSES MMGFRYRCQQ CHNYQLCQDC FWRGHAGGSH SNQHQMKEYT SWKSPAKKLT
NALSKSLSCA SSREPLHPMF PDQPEKPLNL AHIVPPRPVT SMNDTLFSHS VPSSGSPFIT
RSSPPKDSEV EQNKLLARAA PAFLKGKGIQ YSLNVADRLA DEHVLIGLYV NMLRNNPSCM
LESSNRLDEE HRLIARYAAR LAAESSSSQP PQQRSAPDIS FTIDANKQQR QLIAELENKN
REILQEIQRL RLEHEQASQP TPEKAQQNPT LLAELRLLRQ RKDELEQRMS ALQESRRELM
VQLEGLMKLL KEEELKQGVS YVPYCRS*

speed

0.55 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