mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.999993445248412 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM060807)
known disease mutation: rs2015 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:135754263C>TN/A show variant in all transcripts IGV

HGNC symbol

AHI1

Ensembl transcript ID

ENST00000327035

Genbank transcript ID

NM_001134832

UniProt peptide

Q8N157

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2168G>A
cDNA.2447G>A
g.64652G>A

AA changes

R723Q Score: 43 explain score(s)

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

723

frameshift

known variant

Reference ID: rs121434351

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	5	5

known disease mutation: rs2015 (pathogenic for Joubert syndrome|Joubert syndrome 3|Joubert syndrome with ocular defect) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM060807)

known disease mutation at this position, please check HGMD for details (HGMD ID CM060807)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060807)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.244	0.997
	5.781	1
(flanking)	1.348	0.992

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 marginally increased	64652	wt: 0.9687 / mu: 0.9952 (marginal change - not scored)	wt: GATACGGATATGGAA mu: GATACAGATATGGAA	TACG\|gata

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

723

mutated

all conserved

723

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000009368

721

Fcatus

all identical

ENSFCAG00000001813

715

Mmusculus

all identical

ENSMUSG00000019986

573

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000044056

660

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000003723

723

protein features

start (aa)	end (aa)	feature	details
695	735	REPEAT	WD 3.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3162 / 3162

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

1054 / 1054

position of stopcodon in wt / mu cDNA

3441 / 3441

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

280 / 280

chromosome

strand

-1

last intron/exon boundary

3389

theoretical NMD boundary in CDS

3059

length of CDS

3162

coding sequence (CDS) position

2168

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

2447

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

64652

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

135754263

original gDNA sequence snippet

ATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGA

altered gDNA sequence snippet

ATGCTATGATTCCATGATACAGATATGGAAAGTTGAGATGA

original cDNA sequence snippet

ATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGA

altered cDNA sequence snippet

ATGCTATGATTCCATGATACAGATATGGAAAGTTGAGATGA

wildtype AA sequence

MPTAESEAKV KTKVRFEELL KTHSDLMREK KKLKKKLVRS EENISPDTIR SNLHYMKETT
SDDPDTIRSN LPHIKETTSD DVSAANTNNL KKSTRVTKNK LRNTQLATEN PNGDASVEED
KQGKPNKKVI KTVPQLTTQD LKPETPENKV DSTHQKTHTK PQPGVDHQKS EKANEGREET
DLEEDEELMQ AYQCHVTEEM AKEIKRKIRK KLKEQLTYFP SDTLFHDDKL SSEKRKKKKE
VPVFSKAETS TLTISGDTVE GEQKKESSVR SVSSDSHQDD EISSMEQSTE DSMQDDTKPK
PKKTKKKTKA VADNNEDVDG DGVHEITSRD SPVYPKCLLD DDLVLGVYIH RTDRLKSDFM
ISHPMVKIHV VDEHTGQYVK KDDSGRPVSS YYEKENVDYI LPIMTQPYDF KQLKSRLPEW
EEQIVFNENF PYLLRGSDES PKVILFFEIL DFLSVDEIKN NSEVQNQECG FRKIAWAFLK
LLGANGNANI NSKLRLQLYY PPTKPRSPLS VVEAFEWWSK CPRNHYPSTL YVTVRGLKVP
DCIKPSYRSM MALQEEKGKP VHCERHHESS SVDTEPGLEE SKEVIKWKRL PGQACRIPNK
HLFSLNAGER GCFCLDFSHN GRILAAACAS RDGYPIILYE IPSGRFMREL CGHLNIIYDL
SWSKDDHYIL TSSSDGTARI WKNEINNTNT FRVLPHPSFV YTAKFHPAVR ELVVTGCYDS
MIRIWKVEMR EDSAILVRQF DVHKSFINSL CFDTEGHHMY SGDCTGVIVV WNTYVKINDL
EHSVHHWTIN KEIKETEFKG IPISYLEIHP NGKRLLIHTK DSTLRIMDLR ILVARKFVGA
ANYREKIHST LTPCGTFLFA GSEDGIVYVW NPETGEQVAM YSDLPFKSPI RDISYHPFEN
MVAFCAFGQN EPILLYIYDF HVAQQEAEMF KRYNGTFPLP GIHQSQDALC TCPKLPHQGS
FQIDEFVHTE SSSTKMQLVK QRLETVTEVI RSCAAKVNKN LSFTSPPAVS SQQSKLKQSN
MLTAQEILHQ FGFTQTDSHF AEFNTCILWW KKH*

mutated AA sequence

MPTAESEAKV KTKVRFEELL KTHSDLMREK KKLKKKLVRS EENISPDTIR SNLHYMKETT
SDDPDTIRSN LPHIKETTSD DVSAANTNNL KKSTRVTKNK LRNTQLATEN PNGDASVEED
KQGKPNKKVI KTVPQLTTQD LKPETPENKV DSTHQKTHTK PQPGVDHQKS EKANEGREET
DLEEDEELMQ AYQCHVTEEM AKEIKRKIRK KLKEQLTYFP SDTLFHDDKL SSEKRKKKKE
VPVFSKAETS TLTISGDTVE GEQKKESSVR SVSSDSHQDD EISSMEQSTE DSMQDDTKPK
PKKTKKKTKA VADNNEDVDG DGVHEITSRD SPVYPKCLLD DDLVLGVYIH RTDRLKSDFM
ISHPMVKIHV VDEHTGQYVK KDDSGRPVSS YYEKENVDYI LPIMTQPYDF KQLKSRLPEW
EEQIVFNENF PYLLRGSDES PKVILFFEIL DFLSVDEIKN NSEVQNQECG FRKIAWAFLK
LLGANGNANI NSKLRLQLYY PPTKPRSPLS VVEAFEWWSK CPRNHYPSTL YVTVRGLKVP
DCIKPSYRSM MALQEEKGKP VHCERHHESS SVDTEPGLEE SKEVIKWKRL PGQACRIPNK
HLFSLNAGER GCFCLDFSHN GRILAAACAS RDGYPIILYE IPSGRFMREL CGHLNIIYDL
SWSKDDHYIL TSSSDGTARI WKNEINNTNT FRVLPHPSFV YTAKFHPAVR ELVVTGCYDS
MIQIWKVEMR EDSAILVRQF DVHKSFINSL CFDTEGHHMY SGDCTGVIVV WNTYVKINDL
EHSVHHWTIN KEIKETEFKG IPISYLEIHP NGKRLLIHTK DSTLRIMDLR ILVARKFVGA
ANYREKIHST LTPCGTFLFA GSEDGIVYVW NPETGEQVAM YSDLPFKSPI RDISYHPFEN
MVAFCAFGQN EPILLYIYDF HVAQQEAEMF KRYNGTFPLP GIHQSQDALC TCPKLPHQGS
FQIDEFVHTE SSSTKMQLVK QRLETVTEVI RSCAAKVNKN LSFTSPPAVS SQQSKLKQSN
MLTAQEILHQ FGFTQTDSHF AEFNTCILWW KKH*

speed

0.18 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