MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000356231
MT speed 0 s - this script 2.302863 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CDAN1	disease_causing_automatic	0.999667497552567	simple_aae			0	R1042W	single base exchange	rs80338697		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999667497552567 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM023038)
known disease mutation: rs3176 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr15:43018588G>AN/A show variant in all transcripts IGV

HGNC symbol

CDAN1

Ensembl transcript ID

ENST00000356231

Genbank transcript ID

NM_138477

UniProt peptide

Q8IWY9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3124C>T
cDNA.3148C>T
g.10737C>T

AA changes

R1042W Score: 101 explain score(s)

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

1042

frameshift

known variant

Reference ID: rs80338697

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	2	2

known disease mutation: rs3176 (pathogenic for Congenital dyserythropoietic anemia, type I|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM023038)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023038)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023038)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.444	1
	1.222	1
(flanking)	0.203	0.998

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

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1042

mutated

not conserved

1042

Ptroglodytes

all identical

ENSPTRG00000006981

991

Mmulatta

all identical

ENSMMUG00000015123

1042

Fcatus

all identical

ENSFCAG00000003550

1042

Mmusculus

all identical

ENSMUSG00000027284

1047

KFHHCSLQ

Ggallus

all identical

ENSGALG00000009156

1050

Trubripes

no homologue

Drerio

all identical

ENSDARG00000042261

1122

Dmelanogaster

no alignment

FBgn0024510

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3684 / 3684

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

1228 / 1228

position of stopcodon in wt / mu cDNA

3708 / 3708

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

25 / 25

chromosome

strand

-1

last intron/exon boundary

3583

theoretical NMD boundary in CDS

3508

length of CDS

3684

coding sequence (CDS) position

3124

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

3148

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

10737

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

43018588

original gDNA sequence snippet

TCTCCTTGGCCGTGGGGCCACGGGACCCTGACGAGGGAGTC

altered gDNA sequence snippet

TCTCCTTGGCCGTGGGGCCATGGGACCCTGACGAGGGAGTC

original cDNA sequence snippet

TCTCCTTGGCCGTGGGGCCACGGGACCCTGACGAGGGAGTC

altered cDNA sequence snippet

TCTCCTTGGCCGTGGGGCCATGGGACCCTGACGAGGGAGTC

wildtype AA sequence

MAAVLESLLR EEVSVAAVVR WIARSTQGSE DNAGEAAALS SLRALRKEFV PFLLNFLREQ
SSRVLPQGPP TPAKTPGASA ALPGRPGGPP RGSRGARSQL FPPTEAQSTA AEAPLARRGG
RRRGPGPARE RGGRGLEEGV SGESLPGAGG RRLRGSGSPS RPSLTLSDPP NLSNLEEFPP
VGSVPPGPTG TKPSRRINPT PVSEERSLSK PKTCFTSPPI SCVPSSQPSA LDTSPWGLGL
PPGCRSLQEE REMLRKERSK QLQQSPTPTC PTPELGSPLP SRTGSLTDEP ADPARVSSRQ
RLELVALVYS SCIAENLVPN LFLELFFVFQ LLTARRMVTA KDSDPELSPA VLDSLESPLF
QSIHDCVFFA VQVLECHFQV LSNLDKGTLK LLAENERLLC FSPALQGRLR AAYEGSVAKV
SLVMPPSTQA VSFQPETDNR ANFSSDRAFH TFKKQRDVFY EVLREWEDHH EEPGWDFEKG
LGSRIRAMMG QLSAACSHSH FVRLFQKQLL QMCQSPGGAG GTVLGEAPDV LSMLGADKLG
RLWRLQERLM APQSSGGPCP PPTFPGCQGF FRDFILSASS FQFNQHLMDS LSLKIQELNG
LALPQHEPND EDGESDVDWQ GERKQFAVVL LSLRLLAKFL GFVAFLPYRG PEPPPTGELQ
DSILALRSQV PPVLDVRTLL QRGLQARRAV LTVPWLVEFL SFADHVVPLL EYYRDIFTLL
LRLHRSLVLS QESEGKMCFL NKLLLLAVLG WLFQIPTVPE DLFFLEEGPS YAFEVDTVAP
EHGLDNAPVV DQQLLYTCCP YIGELRKLLA SWVSGSSGRS GGFMRKITPT TTTSLGAQPS
QTSQGLQAQL AQAFFHNQPP SLRRTVEFVA ERIGSNCVKH IKATLVADLV RQAESLLQEQ
LVTQGEEGGD PAQLLEILCS QLCPHGAQAL ALGREFCQRK SPGAVRALLP EETPAAVLSS
AENIAVGLAT EKACAWLSAN ITALIRREVK AAVSRTLRAQ GPEPAARGER RGCSRACEHH
APLPSHLISE IKDVLSLAVG PRDPDEGVSP EHLEQLLGQL GQTLRCRQFL CPPAEQHLAK
CSVELASLLV ADQIPILGPP AQYRLERGQA RRLLHMLLSL WKEDFQGPVP LQLLLSPRNV
GLLADTRPRE WDLLLFLLRE LVEKGLMGRM EIEACLGSLH QAQWPGDFAE ELATLSNLFL
AEPHLPEPQL RACELVQPNR GTVLAQS*

mutated AA sequence

MAAVLESLLR EEVSVAAVVR WIARSTQGSE DNAGEAAALS SLRALRKEFV PFLLNFLREQ
SSRVLPQGPP TPAKTPGASA ALPGRPGGPP RGSRGARSQL FPPTEAQSTA AEAPLARRGG
RRRGPGPARE RGGRGLEEGV SGESLPGAGG RRLRGSGSPS RPSLTLSDPP NLSNLEEFPP
VGSVPPGPTG TKPSRRINPT PVSEERSLSK PKTCFTSPPI SCVPSSQPSA LDTSPWGLGL
PPGCRSLQEE REMLRKERSK QLQQSPTPTC PTPELGSPLP SRTGSLTDEP ADPARVSSRQ
RLELVALVYS SCIAENLVPN LFLELFFVFQ LLTARRMVTA KDSDPELSPA VLDSLESPLF
QSIHDCVFFA VQVLECHFQV LSNLDKGTLK LLAENERLLC FSPALQGRLR AAYEGSVAKV
SLVMPPSTQA VSFQPETDNR ANFSSDRAFH TFKKQRDVFY EVLREWEDHH EEPGWDFEKG
LGSRIRAMMG QLSAACSHSH FVRLFQKQLL QMCQSPGGAG GTVLGEAPDV LSMLGADKLG
RLWRLQERLM APQSSGGPCP PPTFPGCQGF FRDFILSASS FQFNQHLMDS LSLKIQELNG
LALPQHEPND EDGESDVDWQ GERKQFAVVL LSLRLLAKFL GFVAFLPYRG PEPPPTGELQ
DSILALRSQV PPVLDVRTLL QRGLQARRAV LTVPWLVEFL SFADHVVPLL EYYRDIFTLL
LRLHRSLVLS QESEGKMCFL NKLLLLAVLG WLFQIPTVPE DLFFLEEGPS YAFEVDTVAP
EHGLDNAPVV DQQLLYTCCP YIGELRKLLA SWVSGSSGRS GGFMRKITPT TTTSLGAQPS
QTSQGLQAQL AQAFFHNQPP SLRRTVEFVA ERIGSNCVKH IKATLVADLV RQAESLLQEQ
LVTQGEEGGD PAQLLEILCS QLCPHGAQAL ALGREFCQRK SPGAVRALLP EETPAAVLSS
AENIAVGLAT EKACAWLSAN ITALIRREVK AAVSRTLRAQ GPEPAARGER RGCSRACEHH
APLPSHLISE IKDVLSLAVG PWDPDEGVSP EHLEQLLGQL GQTLRCRQFL CPPAEQHLAK
CSVELASLLV ADQIPILGPP AQYRLERGQA RRLLHMLLSL WKEDFQGPVP LQLLLSPRNV
GLLADTRPRE WDLLLFLLRE LVEKGLMGRM EIEACLGSLH QAQWPGDFAE ELATLSNLFL
AEPHLPEPQL RACELVQPNR GTVLAQS*

speed

0.30 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
back to results table

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

Problems