mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.998272297290843 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
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)

chr3:57475351T>GN/A show variant in all transcripts IGV

HGNC symbol

DNAH12

Ensembl transcript ID

ENST00000389536

Genbank transcript ID

N/A

UniProt peptide

Q6ZR08

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1399A>C
cDNA.1580A>C
g.54721A>C

AA changes

T467P Score: 38 explain score(s)

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

467

frameshift

known variant

Reference ID: rs6806444

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1020	1133	2153
ExAC	5610	4305	9915

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.854	1
	1.346	0.994
(flanking)	-0.006	0.957

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
Acc increased	54727	wt: 0.30 / mu: 0.68	wt: AGTGGATTCATTACACTATGGTGCGTTTGGATTGTGAAGAT mu: AGTGGATTCATTACCCTATGGTGCGTTTGGATTGTGAAGAT	atgg\|TGCG
Acc gained	54730	0.53	mu: GGATTCATTACCCTATGGTGCGTTTGGATTGTGAAGATTTG	gtgc\|GTTT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

467

mutated

not conserved

467

Ptroglodytes

no homologue

Mmulatta

no alignment

ENSMMUG00000004881

n/a

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1	1214	REGION	Stem (By similarity).	lost
592	665	COILED	Potential.	might get lost (downstream of altered splice site)
731	762	COILED	Potential.	might get lost (downstream of altered splice site)
1125	1125	CONFLICT	S -> G (in Ref. 3; AAB09729).	might get lost (downstream of altered splice site)
1170	1170	CONFLICT	H -> R (in Ref. 3; AAB09729).	might get lost (downstream of altered splice site)
1215	1436	REGION	AAA 1 (By similarity).	might get lost (downstream of altered splice site)
1253	1260	MOTIF	GPAGTGKT motif.	might get lost (downstream of altered splice site)
1253	1260	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
1303	1309	MOTIF	CFDEFNR motif.	might get lost (downstream of altered splice site)
1310	1311	CONFLICT	IE -> NS (in Ref. 3; AAB09729).	might get lost (downstream of altered splice site)
1496	1636	REGION	AAA 2 (By similarity).	might get lost (downstream of altered splice site)
1534	1541	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
1853	2104	REGION	AAA 3 (By similarity).	might get lost (downstream of altered splice site)
1892	1899	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
2218	2660	REGION	AAA 4 (By similarity).	might get lost (downstream of altered splice site)
2257	2264	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
2661	2795	REGION	Stalk (By similarity).	might get lost (downstream of altered splice site)
2874	3051	REGION	AAA 5 (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2355 / 2355

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

785 / 785

position of stopcodon in wt / mu cDNA

2536 / 2536

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

182 / 182

chromosome

strand

-1

last intron/exon boundary

2287

theoretical NMD boundary in CDS

2055

length of CDS

2355

coding sequence (CDS) position

1399

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

1580

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

54721

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

57475351

original gDNA sequence snippet

TGCCTCAGTGGATTCATTACACTATGGTGCGTTTGGATTGT

altered gDNA sequence snippet

TGCCTCAGTGGATTCATTACCCTATGGTGCGTTTGGATTGT

original cDNA sequence snippet

TGCCTCAGTGGATTCATTACACTATGGTGCGTTTGGATTGT

altered cDNA sequence snippet

TGCCTCAGTGGATTCATTACCCTATGGTGCGTTTGGATTGT

wildtype AA sequence

MSDANKAAIA AEKEALNLKL PPIVHLPENI GVDTPTQSKL LKYRRSKEQQ QKINQLVIDG
AKRNLDRTLG KRTPLLPPPD YPQTMTSEMK KKGFNYIYMK QCVESSPLVP IQQEWLDHML
RLIPESLKEG KEREELLESL INEVSSDFEN SMKRYLVQSV LVKPPVKSLE DEGGPLPESP
VGLDYSNPWH SSYVQARNQI FSNLHIIHPT MKMLLDLGYT TFADTVLLDF TGIRAKGPID
CESLKTDLSI QTRNAEEKIM NTWYPKVINL FTKKEALEGV KPEKLDAFYS CVSTLMSNQL
KDLLRRTVEG FVKLFDPKDQ QRLPIFKIEL TFDDDKMEFY PTFQDLEDNV LSLVERIAEA
LQNVQTIPSW LSGTSTPVNL DTELPEHVLH WAVDTLKAAV HRNLEGARKH YETYVEKYNW
LLDGTAVENI ETFQTEDHTF DEYTEFIEKF LSLASEIMLL PQWIHYTMVR LDCEDLKTGL
TNKAKAFANI LLNDIASKYR KENECICSEF EAIKEHALKV PETTEEMMDL ISYVEKARTV
GIEELILRIQ ESKRQMSYFL DVFLFPQEDL ALNATVLMWP RKINPIFDEN DELIENAKHK
KENELMAKRE KLILEIEKES RRMEEFTEFA ELERMQQYVT DVRQLQKRIQ ESEEAVQFIN
KEEELFKWEL TKYPELDKLK VNIEPYQKFF NFVLKWQRSE KRWMDGGFLD LNGESMEADV
EEFSREIFKT LKFFQTKLKK ELQEKRKAAR KRSLEEEKIE EEPKDNATIT MCSTVMEQIK
AFKV*

mutated AA sequence

MSDANKAAIA AEKEALNLKL PPIVHLPENI GVDTPTQSKL LKYRRSKEQQ QKINQLVIDG
AKRNLDRTLG KRTPLLPPPD YPQTMTSEMK KKGFNYIYMK QCVESSPLVP IQQEWLDHML
RLIPESLKEG KEREELLESL INEVSSDFEN SMKRYLVQSV LVKPPVKSLE DEGGPLPESP
VGLDYSNPWH SSYVQARNQI FSNLHIIHPT MKMLLDLGYT TFADTVLLDF TGIRAKGPID
CESLKTDLSI QTRNAEEKIM NTWYPKVINL FTKKEALEGV KPEKLDAFYS CVSTLMSNQL
KDLLRRTVEG FVKLFDPKDQ QRLPIFKIEL TFDDDKMEFY PTFQDLEDNV LSLVERIAEA
LQNVQTIPSW LSGTSTPVNL DTELPEHVLH WAVDTLKAAV HRNLEGARKH YETYVEKYNW
LLDGTAVENI ETFQTEDHTF DEYTEFIEKF LSLASEIMLL PQWIHYPMVR LDCEDLKTGL
TNKAKAFANI LLNDIASKYR KENECICSEF EAIKEHALKV PETTEEMMDL ISYVEKARTV
GIEELILRIQ ESKRQMSYFL DVFLFPQEDL ALNATVLMWP RKINPIFDEN DELIENAKHK
KENELMAKRE KLILEIEKES RRMEEFTEFA ELERMQQYVT DVRQLQKRIQ ESEEAVQFIN
KEEELFKWEL TKYPELDKLK VNIEPYQKFF NFVLKWQRSE KRWMDGGFLD LNGESMEADV
EEFSREIFKT LKFFQTKLKK ELQEKRKAAR KRSLEEEKIE EEPKDNATIT MCSTVMEQIK
AFKV*

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