mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.997119314982071 (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)

chr1:15668276G>AN/A show variant in all transcripts IGV

HGNC symbol

FHAD1

Ensembl transcript ID

ENST00000375998

Genbank transcript ID

N/A

UniProt peptide

B1AJZ9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1951G>A
cDNA.1951G>A
g.94509G>A

AA changes

G651R Score: 125 explain score(s)

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

651

frameshift

known variant

Reference ID: rs763821

database	homozygous (A/A)	heterozygous	allele carriers
1000G	376	980	1356
ExAC	1848	5379	7227

regulatory features

H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.584	0.909
	-0.083	0.836
(flanking)	0.771	0.831

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 marginally increased	94509	wt: 0.6390 / mu: 0.6798 (marginal change - not scored)	wt: ACTCAGCAGTCTTTACTGCAGGAAAAGCTGCGGGAGCATCT mu: ACTCAGCAGTCTTTACTGCAAGAAAAGCTGCGGGAGCATCT	gcag\|GAAA
Donor marginally increased	94509	wt: 0.9958 / mu: 0.9982 (marginal change - not scored)	wt: CTGCAGGAAAAGCTG mu: CTGCAAGAAAAGCTG	GCAG\|gaaa
Donor marginally increased	94514	wt: 0.9109 / mu: 0.9612 (marginal change - not scored)	wt: GGAAAAGCTGCGGGA mu: AGAAAAGCTGCGGGA	AAAA\|gctg
Donor gained	94505	0.30	mu: TTTACTGCAAGAAAA	TACT\|gcaa
Donor gained	94504	0.83	mu: CTTTACTGCAAGAAA	TTAC\|tgca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

651

mutated

not conserved

651

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000003987

429

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000051435

643

Ggallus

no homologue

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000056723

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
692	963	COILED	Potential.	might get lost (downstream of altered splice site)
999	1099	COILED	Potential.	might get lost (downstream of altered splice site)
1004	1004	CONFLICT	I -> L (in Ref. 2; BAC04913).	might get lost (downstream of altered splice site)
1141	1169	COILED	Potential.	might get lost (downstream of altered splice site)
1292	1360	COILED	Potential.	might get lost (downstream of altered splice site)
1366	1366	CONFLICT	I -> V (in Ref. 2; BAC04913).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4239 / 4239

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

1413 / 1413

position of stopcodon in wt / mu cDNA

4239 / 4239

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

1 / 1

chromosome

strand

last intron/exon boundary

4123

theoretical NMD boundary in CDS

4072

length of CDS

4239

coding sequence (CDS) position

1951

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

1951

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

94509

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

15668276

original gDNA sequence snippet

ACTCAGCAGTCTTTACTGCAGGAAAAGCTGCGGGAGCATCT

altered gDNA sequence snippet

ACTCAGCAGTCTTTACTGCAAGAAAAGCTGCGGGAGCATCT

original cDNA sequence snippet

ACTCAGCAGTCTTTACTGCAGGAAAAGCTGCGGGAGCATCT

altered cDNA sequence snippet

ACTCAGCAGTCTTTACTGCAAGAAAAGCTGCGGGAGCATCT

wildtype AA sequence

MKAYLKSAEG FFVLNKSTTI GRHENSDLVL QSPDIDNHHA LIEYNEAECS FVLQDFNSRN
GTFVNECHIQ NVAVKLIPGD ILRFGSAGLT YELVIENPPP VSFPWMRGPA PWPGPQPPRA
TQQPNQAPPP SHIPFHQGVQ PAPMQRSWSQ AFPRPTVVLP ASHRRPVSAN KEMFSFVVDD
ARKPPVIKQV WTNAMKLSEK SVAEGIPGAV PPAEIYVEED LAQQDKDEII LLLGKEVSRL
SDYEIESKYK DVIIANLQNE VAELSQKVSE TTTSRQNEKE ISQKCQVLDE DIDAKQKEIQ
SLKSQISALQ KGYSKVLCQT LSERNSEITS LKNEGENLKR DNAITSGMVS SLQKDILAKD
EQVQQLKEEV SHLKSQNKDK DHQLEALGSR CSVLKEELKQ EDAHRELREA QEKELKLCKT
QIQDMEKEMK KLRAELRKSC TEQSVISRTL REKSKVEEKL QEDSRRKLLQ LQEMGNRESV
IKINLERAVG QLEHFRSQVI KATYGRAKPF RDKPVTDQQL IEKITQVTED NINFQQKKWT
LQKETQLSNS KQEETTENIE KLRTSLDSCQ ACMKISCCSH DLKKEVDLLQ HLQVSPPVSG
LQKVVLDVLR HALSWLEEVE QLLRDLGILP SSPNKDQVQQ FSGNSAVFTA GKAAGASGRE
GEAERGEARA RGEAQSQNQA TDGREGGKAL EEYITQERNR AKETLEEERK RMQELESLLA
QQKKALAKSI TQEKNRVKEA LEEEQTRVQE LEERLARQKE VLESSIAHEK RKAKEALESE
KRKVQDLENH LTQQKEISES NIAYEKRKAK EAMEKEKKKV QDLENRLTKQ KEELELKEQK
EDVLNNKLSD ALAMVEETQK TKATESLKAE SLALKLNETL AELETTKTKM IMVEERLILQ
QKMVKALQDE QESQRHGFEE EIMEYKEQIK QHAQTIVSLE EKLQKVTQHH KKIEGEIATL
KDNDPAPKEE RPQDPLVAPM TESSAKDMAY EHLIDDLLAA QKEILSQQEV IMKLRKDLTE
AHSRMSDLRG ELNEKQKMEL EQNVVLVQQQ SKELSVLKEK MAQMSSLVEK KDRELKALEE
ALRASQEKHR LQLNTEKEQK PRKKTQTCDT SVQIEPVHTE AFSSSQEQQS FSDLGVRCKG
SRHEEVIQRQ KKALSELRAR IKELEKARSP DHKDHQNESF LDLKNLRMEN NVQKILLDAK
PDLPTLSRIE ILAPQNGLCN ARFGSAMEKS GKMDVAEALE LSEKLYLDMS KTLGSLMNIK
NMSGHVSMKY LSRQEREKVN QLRQRDLDLV FDKITQLKNQ LGRKEELLRG YEKDVEQLRR
SKVSIEMYQS QVAKLEDDIY KEAEEKALLK EALERMEHQL CQEKRINRAI RQQKVGTRKA
SLKMDQEREM LRKETSSKSS QSLLHSKPSG KY*

mutated AA sequence

MKAYLKSAEG FFVLNKSTTI GRHENSDLVL QSPDIDNHHA LIEYNEAECS FVLQDFNSRN
GTFVNECHIQ NVAVKLIPGD ILRFGSAGLT YELVIENPPP VSFPWMRGPA PWPGPQPPRA
TQQPNQAPPP SHIPFHQGVQ PAPMQRSWSQ AFPRPTVVLP ASHRRPVSAN KEMFSFVVDD
ARKPPVIKQV WTNAMKLSEK SVAEGIPGAV PPAEIYVEED LAQQDKDEII LLLGKEVSRL
SDYEIESKYK DVIIANLQNE VAELSQKVSE TTTSRQNEKE ISQKCQVLDE DIDAKQKEIQ
SLKSQISALQ KGYSKVLCQT LSERNSEITS LKNEGENLKR DNAITSGMVS SLQKDILAKD
EQVQQLKEEV SHLKSQNKDK DHQLEALGSR CSVLKEELKQ EDAHRELREA QEKELKLCKT
QIQDMEKEMK KLRAELRKSC TEQSVISRTL REKSKVEEKL QEDSRRKLLQ LQEMGNRESV
IKINLERAVG QLEHFRSQVI KATYGRAKPF RDKPVTDQQL IEKITQVTED NINFQQKKWT
LQKETQLSNS KQEETTENIE KLRTSLDSCQ ACMKISCCSH DLKKEVDLLQ HLQVSPPVSG
LQKVVLDVLR HALSWLEEVE QLLRDLGILP SSPNKDQVQQ FSGNSAVFTA RKAAGASGRE
GEAERGEARA RGEAQSQNQA TDGREGGKAL EEYITQERNR AKETLEEERK RMQELESLLA
QQKKALAKSI TQEKNRVKEA LEEEQTRVQE LEERLARQKE VLESSIAHEK RKAKEALESE
KRKVQDLENH LTQQKEISES NIAYEKRKAK EAMEKEKKKV QDLENRLTKQ KEELELKEQK
EDVLNNKLSD ALAMVEETQK TKATESLKAE SLALKLNETL AELETTKTKM IMVEERLILQ
QKMVKALQDE QESQRHGFEE EIMEYKEQIK QHAQTIVSLE EKLQKVTQHH KKIEGEIATL
KDNDPAPKEE RPQDPLVAPM TESSAKDMAY EHLIDDLLAA QKEILSQQEV IMKLRKDLTE
AHSRMSDLRG ELNEKQKMEL EQNVVLVQQQ SKELSVLKEK MAQMSSLVEK KDRELKALEE
ALRASQEKHR LQLNTEKEQK PRKKTQTCDT SVQIEPVHTE AFSSSQEQQS FSDLGVRCKG
SRHEEVIQRQ KKALSELRAR IKELEKARSP DHKDHQNESF LDLKNLRMEN NVQKILLDAK
PDLPTLSRIE ILAPQNGLCN ARFGSAMEKS GKMDVAEALE LSEKLYLDMS KTLGSLMNIK
NMSGHVSMKY LSRQEREKVN QLRQRDLDLV FDKITQLKNQ LGRKEELLRG YEKDVEQLRR
SKVSIEMYQS QVAKLEDDIY KEAEEKALLK EALERMEHQL CQEKRINRAI RQQKVGTRKA
SLKMDQEREM LRKETSSKSS QSLLHSKPSG KY*

speed

1.02 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