MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 2 transcript(s)...
Querying Taster for transcript #1: ENST00000272895
Querying Taster for transcript #2: ENST00000389661
MT speed 0 s - this script 3.914654 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ABCA12	disease_causing_automatic	0.99898815888397	simple_aae		affected	0	N1062S	single base exchange	rs28940269		show file
ABCA12	disease_causing_automatic	0.999937943258381	simple_aae		affected	0	N1380S	single base exchange	rs28940269		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.99898815888397 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM032165)
known disease mutation: rs2855 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:215851290T>CN/A show variant in all transcripts IGV

HGNC symbol

ABCA12

Ensembl transcript ID

ENST00000389661

Genbank transcript ID

NM_015657

UniProt peptide

Q86UK0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.3185A>G
cDNA.3344A>G
g.151862A>G

AA changes

N1062S Score: 46 explain score(s)

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

1062

frameshift

known variant

Reference ID: rs28940269

database	homozygous (C/C)	heterozygous	allele carriers
1000G	0	1	1
ExAC	0	9	9

known disease mutation: rs2855 (pathogenic for Autosomal recessive congenital ichthyosis 4B|Autosomal recessive congenital ichthyosis 4A|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032165)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032165)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032165)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.192	0.965
	3.563	1
(flanking)	5.126	1

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	151855	wt: 0.61 / mu: 0.71	wt: GGCATATTACTTCATTGCTGGGGCCCAATGGAGCTGGGAAA mu: GGCATATTACTTCATTGCTGGGGCCCAGTGGAGCTGGGAAA	ctgg\|GGCC
Acc marginally increased	151854	wt: 0.8602 / mu: 0.9048 (marginal change - not scored)	wt: GGGCATATTACTTCATTGCTGGGGCCCAATGGAGCTGGGAA mu: GGGCATATTACTTCATTGCTGGGGCCCAGTGGAGCTGGGAA	gctg\|GGGC
Donor marginally increased	151861	wt: 0.9654 / mu: 0.9961 (marginal change - not scored)	wt: GGCCCAATGGAGCTG mu: GGCCCAGTGGAGCTG	CCCA\|atgg
Donor gained	151856	0.55	mu: GCTGGGGCCCAGTGG	TGGG\|gccc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1062

mutated

all conserved

1062

Ptroglodytes

all identical

ENSPTRG00000012889

1380

Mmulatta

all identical

ENSMMUG00000014813

1359

Fcatus

no alignment

ENSFCAG00000009215

n/a

Mmusculus

all identical

ENSMUSG00000050296

1380

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000074749

596

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1065	1085	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1112	1132	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1145	1165	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1170	1170	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1174	1194	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1200	1220	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1250	1270	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1346	1577	DOMAIN	ABC transporter 1.	might get lost (downstream of altered splice site)
1378	1385	NP_BIND	ATP 1 (Potential).	might get lost (downstream of altered splice site)
1524	1524	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1663	1663	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1704	1704	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1747	1767	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1769	1769	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1819	1819	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1835	1835	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1876	1876	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1921	1921	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1952	1952	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1979	1999	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
2035	2055	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
2072	2092	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
2079	2079	CONFLICT	Y -> H (in Ref. 1; AAP21093).	might get lost (downstream of altered splice site)
2103	2123	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
2178	2178	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2187	2207	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
2208	2208	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2223	2223	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2254	2489	DOMAIN	ABC transporter 2.	might get lost (downstream of altered splice site)
2270	2290	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
2290	2297	NP_BIND	ATP 2 (Potential).	might get lost (downstream of altered splice site)
2318	2318	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2542	2542	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2547	2547	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

6834 / 6834

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

2278 / 2278

position of stopcodon in wt / mu cDNA

6993 / 6993

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

160 / 160

chromosome

strand

-1

last intron/exon boundary

6886

theoretical NMD boundary in CDS

6676

length of CDS

6834

coding sequence (CDS) position

3185

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

3344

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

151862

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

215851290

original gDNA sequence snippet

TACTTCATTGCTGGGGCCCAATGGAGCTGGGAAAACTACTA

altered gDNA sequence snippet

TACTTCATTGCTGGGGCCCAGTGGAGCTGGGAAAACTACTA

original cDNA sequence snippet

TACTTCATTGCTGGGGCCCAATGGAGCTGGGAAAACTACTA

altered cDNA sequence snippet

TACTTCATTGCTGGGGCCCAGTGGAGCTGGGAAAACTACTA

wildtype AA sequence

MFTYIKIITS GDSDNITHVW NEDDGQTLSP SSLAAQLLIL ENFEDALLNI SANSPYIPYL
ACVRNVTDSL ARGSPENLRL LQSTIRFKKS FLRNGSYEDY FPPVPEVLKS KLSQLRNLTE
LLCESETFSL IEKSCQLSDM SFGSLCEESE FDLQLLEAAE LGTEIAASLL YHDNVISKKV
RDLLTGDPSK INLNMDQFLE QALQMNYLEN ITQLIPIIEA MLHVNNSADA SEKPGQLLEM
FKNVEELKED LRRTTGMSNR TIDKLLAIPI PDNRAEIISQ VFWLHSCDTN ITTPKLEDAM
KEFCNLSLSE RSRQSYLIGL TLLHYLNIYN FTYKVFFPRK DQKPVEKMME LFIRLKEILN
QMASGTHPLL DKMRSLKQMH LPRSVPLTQA MYRSNRMNTP QGSFSTISQA LCSQGITTEY
LTAMLPSSQR PKGNHTKDFL TYKLTKEQIA SKYGIPINST PFCFSLYKDI INMPAGPVIW
AFLKPMLLGR ILYAPYNPVT KAIMEKSNVT LRQLAELREK SQEWMDKSPL FMNSFHLLNQ
AIPMLQNTLR NPFVQVFVKF SVGLDAVELL KQIDELDILR LKLENNIDII DQLNTLSSLT
VNISSCVLYD RIQAAKTIDE MEREAKRLYK SNELFGSVIF KLPSNRSWHR GYDSGNVFLP
PVIKYTIRMS LKTAQTTRSL RTKIWAPGPH NSPSHNQIYG RAFIYLQDSI ERAIIELQTG
RNSQEIAVQV QAIPYPCFMK DNFLTSVSYS LPIVLMVAWV VFIAAFVKKL VYEKDLRLHE
YMKMMGVNSC SHFFAWLIES VGFLLVTIVI LIIILKFGNI LPKTNGFILF LYFSDYSFSV
IAMSYLISVF FNNTNIAALI GSLIYIIAFF PFIVLVTVEN ELSYVLKVFM SLLSPTAFSY
ASQYIARYEE QGIGLQWENM YTSPVQDDTT SFGWLCCLIL ADSFIYFLIA WYVRNVFPGT
YGMAAPWYFP ILPSYWKERF GCAEVKPEKS NGLMFTNIMM QNTNPSASPE YMFSSNIEPE
PKDLTVGVAL HGVTKIYGSK VAVDNLNLNF YEGHITSLLG PNGAGKTTTI SMLTGLFGAS
AGTIFVYGKD IKTDLHTVRK NMGVCMQHDV LFSYLTTKEH LLLYGSIKVP HWTKKQLHEE
VKRTLKDTGL YSHRHKRVGT LSGGMKRKLS ISIALIGGSR VVILDEPSTG VDPCSRRSIW
DVISKNKTAR TIILSTHHLD EAEVLSDRIA FLEQGGLRCC GSPFYLKEAF GDGYHLTLTK
KKSPNLNANA VCDTMAVTAM IQSHLPEAYL KEDIGGELVY VLPPFSTKVS GAYLSLLRAL
DNGMGDLNIG CYGISDTTVE EVFLNLTKES QKNSAMSLEH LTQKKIGNSN ANGISTPDDL
SVSSSNFTDR DDKILTRGER LDGFGLLLKK IMAILIKRFH HTRRNWKGLI AQVILPIVFV
TTAMGLGTLR NSSNSYPEIQ ISPSLYGTSE QTAFYANYHP STEALVSAMW DFPGIDNMCL
NTSDLQCLNK DSLEKWNTSG EPITNFGVCS CSENVQECPK FNYSPPHRRT YSSQVIYNLT
GQRVENYLIS TANEFVQKRY GGWSFGLPLT KDLRFDITGV PANRTLAKVW YDPEGYHSLP
AYLNSLNNFL LRVNMSKYDA ARHGIIMYSH PYPGVQDQEQ ATISSLIDIL VALSILMGYS
VTTASFVTYV VREHQTKAKQ LQHISGIGVT CYWVTNFIYD MVFYLVPVAF SIGIIAIFKL
PAFYSENNLG AVSLLLLLFG YATFSWMYLL AGLFHETGMA FITYVCVNLF FGINSIVSLS
VVYFLSKEKP NDPTLELISE TLKRIFLIFP QFCFGYGLIE LSQQQSVLDF LKAYGVEYPN
ETFEMNKLGA MFVALVSQGT MFFSLRLLIN ESLIKKLRLF FRKFNSSHVR ETIDEDEDVR
AERLRVESGA AEFDLVQLYC LTKTYQLIHK KIIAVNNISI GIPAGECFGL LGVNGAGKTT
IFKMLTGDII PSSGNILIRN KTGSLGHVDS HSSLVGYCPQ EDALDDLVTV EEHLYFYARV
HGIPEKDIKE TVHKLLRRLH LMPFKDRATS MCSYGTKRKL STALALIGKP SILLLDEPSS
GMDPKSKRHL WKIISEEVQN KCSVILTSHS MEECEALCTR LAIMVNGKFQ CIGSLQHIKS
RFGRGFTVKV HLKNNKVTME TLTKFMQLHF PKTYLKDQHL SMLEYHVPVT AGGVANIFDL
LETNKTALNI TNFLVSQTTL EEVFINFAKD QKSYETADTS SQGSTISVDS QDDQMES*

mutated AA sequence

MFTYIKIITS GDSDNITHVW NEDDGQTLSP SSLAAQLLIL ENFEDALLNI SANSPYIPYL
ACVRNVTDSL ARGSPENLRL LQSTIRFKKS FLRNGSYEDY FPPVPEVLKS KLSQLRNLTE
LLCESETFSL IEKSCQLSDM SFGSLCEESE FDLQLLEAAE LGTEIAASLL YHDNVISKKV
RDLLTGDPSK INLNMDQFLE QALQMNYLEN ITQLIPIIEA MLHVNNSADA SEKPGQLLEM
FKNVEELKED LRRTTGMSNR TIDKLLAIPI PDNRAEIISQ VFWLHSCDTN ITTPKLEDAM
KEFCNLSLSE RSRQSYLIGL TLLHYLNIYN FTYKVFFPRK DQKPVEKMME LFIRLKEILN
QMASGTHPLL DKMRSLKQMH LPRSVPLTQA MYRSNRMNTP QGSFSTISQA LCSQGITTEY
LTAMLPSSQR PKGNHTKDFL TYKLTKEQIA SKYGIPINST PFCFSLYKDI INMPAGPVIW
AFLKPMLLGR ILYAPYNPVT KAIMEKSNVT LRQLAELREK SQEWMDKSPL FMNSFHLLNQ
AIPMLQNTLR NPFVQVFVKF SVGLDAVELL KQIDELDILR LKLENNIDII DQLNTLSSLT
VNISSCVLYD RIQAAKTIDE MEREAKRLYK SNELFGSVIF KLPSNRSWHR GYDSGNVFLP
PVIKYTIRMS LKTAQTTRSL RTKIWAPGPH NSPSHNQIYG RAFIYLQDSI ERAIIELQTG
RNSQEIAVQV QAIPYPCFMK DNFLTSVSYS LPIVLMVAWV VFIAAFVKKL VYEKDLRLHE
YMKMMGVNSC SHFFAWLIES VGFLLVTIVI LIIILKFGNI LPKTNGFILF LYFSDYSFSV
IAMSYLISVF FNNTNIAALI GSLIYIIAFF PFIVLVTVEN ELSYVLKVFM SLLSPTAFSY
ASQYIARYEE QGIGLQWENM YTSPVQDDTT SFGWLCCLIL ADSFIYFLIA WYVRNVFPGT
YGMAAPWYFP ILPSYWKERF GCAEVKPEKS NGLMFTNIMM QNTNPSASPE YMFSSNIEPE
PKDLTVGVAL HGVTKIYGSK VAVDNLNLNF YEGHITSLLG PSGAGKTTTI SMLTGLFGAS
AGTIFVYGKD IKTDLHTVRK NMGVCMQHDV LFSYLTTKEH LLLYGSIKVP HWTKKQLHEE
VKRTLKDTGL YSHRHKRVGT LSGGMKRKLS ISIALIGGSR VVILDEPSTG VDPCSRRSIW
DVISKNKTAR TIILSTHHLD EAEVLSDRIA FLEQGGLRCC GSPFYLKEAF GDGYHLTLTK
KKSPNLNANA VCDTMAVTAM IQSHLPEAYL KEDIGGELVY VLPPFSTKVS GAYLSLLRAL
DNGMGDLNIG CYGISDTTVE EVFLNLTKES QKNSAMSLEH LTQKKIGNSN ANGISTPDDL
SVSSSNFTDR DDKILTRGER LDGFGLLLKK IMAILIKRFH HTRRNWKGLI AQVILPIVFV
TTAMGLGTLR NSSNSYPEIQ ISPSLYGTSE QTAFYANYHP STEALVSAMW DFPGIDNMCL
NTSDLQCLNK DSLEKWNTSG EPITNFGVCS CSENVQECPK FNYSPPHRRT YSSQVIYNLT
GQRVENYLIS TANEFVQKRY GGWSFGLPLT KDLRFDITGV PANRTLAKVW YDPEGYHSLP
AYLNSLNNFL LRVNMSKYDA ARHGIIMYSH PYPGVQDQEQ ATISSLIDIL VALSILMGYS
VTTASFVTYV VREHQTKAKQ LQHISGIGVT CYWVTNFIYD MVFYLVPVAF SIGIIAIFKL
PAFYSENNLG AVSLLLLLFG YATFSWMYLL AGLFHETGMA FITYVCVNLF FGINSIVSLS
VVYFLSKEKP NDPTLELISE TLKRIFLIFP QFCFGYGLIE LSQQQSVLDF LKAYGVEYPN
ETFEMNKLGA MFVALVSQGT MFFSLRLLIN ESLIKKLRLF FRKFNSSHVR ETIDEDEDVR
AERLRVESGA AEFDLVQLYC LTKTYQLIHK KIIAVNNISI GIPAGECFGL LGVNGAGKTT
IFKMLTGDII PSSGNILIRN KTGSLGHVDS HSSLVGYCPQ EDALDDLVTV EEHLYFYARV
HGIPEKDIKE TVHKLLRRLH LMPFKDRATS MCSYGTKRKL STALALIGKP SILLLDEPSS
GMDPKSKRHL WKIISEEVQN KCSVILTSHS MEECEALCTR LAIMVNGKFQ CIGSLQHIKS
RFGRGFTVKV HLKNNKVTME TLTKFMQLHF PKTYLKDQHL SMLEYHVPVT AGGVANIFDL
LETNKTALNI TNFLVSQTTL EEVFINFAKD QKSYETADTS SQGSTISVDS QDDQMES*

speed

1.38 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

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999937943258381 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM032165)
known disease mutation: rs2855 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:215851290T>CN/A show variant in all transcripts IGV

HGNC symbol

ABCA12

Ensembl transcript ID

ENST00000272895

Genbank transcript ID

NM_173076

UniProt peptide

Q86UK0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.4139A>G
cDNA.4359A>G
g.151862A>G

AA changes

N1380S Score: 46 explain score(s)

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

1380

frameshift

known variant

Reference ID: rs28940269

database	homozygous (C/C)	heterozygous	allele carriers
1000G	0	1	1
ExAC	0	9	9

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.192	0.965
	3.563	1
(flanking)	5.126	1

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	151855	wt: 0.61 / mu: 0.71	wt: GGCATATTACTTCATTGCTGGGGCCCAATGGAGCTGGGAAA mu: GGCATATTACTTCATTGCTGGGGCCCAGTGGAGCTGGGAAA	ctgg\|GGCC
Acc marginally increased	151854	wt: 0.8602 / mu: 0.9048 (marginal change - not scored)	wt: GGGCATATTACTTCATTGCTGGGGCCCAATGGAGCTGGGAA mu: GGGCATATTACTTCATTGCTGGGGCCCAGTGGAGCTGGGAA	gctg\|GGGC
Donor marginally increased	151861	wt: 0.9654 / mu: 0.9961 (marginal change - not scored)	wt: GGCCCAATGGAGCTG mu: GGCCCAGTGGAGCTG	CCCA\|atgg
Donor gained	151856	0.55	mu: GCTGGGGCCCAGTGG	TGGG\|gccc

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1380

mutated

all conserved

1380

Ptroglodytes

all identical

ENSPTRG00000012889

1380

Mmulatta

all identical

ENSMMUG00000014813

1359

Fcatus

no alignment

ENSFCAG00000009215

n/a

Mmusculus

all identical

ENSMUSG00000050296

1380

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000074749

596

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1346	1577	DOMAIN	ABC transporter 1.	lost
1378	1385	NP_BIND	ATP 1 (Potential).	lost
1524	1524	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1663	1663	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1704	1704	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1747	1767	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
1769	1769	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1819	1819	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1835	1835	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1876	1876	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1921	1921	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1952	1952	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
1979	1999	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
2035	2055	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
2072	2092	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
2079	2079	CONFLICT	Y -> H (in Ref. 1; AAP21093).	might get lost (downstream of altered splice site)
2103	2123	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
2178	2178	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2187	2207	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
2208	2208	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2223	2223	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2254	2489	DOMAIN	ABC transporter 2.	might get lost (downstream of altered splice site)
2270	2290	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
2290	2297	NP_BIND	ATP 2 (Potential).	might get lost (downstream of altered splice site)
2318	2318	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2542	2542	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
2547	2547	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

7788 / 7788

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

2596 / 2596

position of stopcodon in wt / mu cDNA

8008 / 8008

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

221 / 221

chromosome

strand

-1

last intron/exon boundary

7901

theoretical NMD boundary in CDS

7630

length of CDS

7788

coding sequence (CDS) position

4139

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

4359

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

151862

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

215851290

original gDNA sequence snippet

TACTTCATTGCTGGGGCCCAATGGAGCTGGGAAAACTACTA

altered gDNA sequence snippet

TACTTCATTGCTGGGGCCCAGTGGAGCTGGGAAAACTACTA

original cDNA sequence snippet

TACTTCATTGCTGGGGCCCAATGGAGCTGGGAAAACTACTA

altered cDNA sequence snippet

TACTTCATTGCTGGGGCCCAGTGGAGCTGGGAAAACTACTA

wildtype AA sequence

MASLFHQLQI LVWKNWLGVK RQPLWTLVLI LWPVIIFIIL AITRTKFPPT AKPTCYLAPR
NLPSTGFFPF LQTLLCDTDS KCKDTPYGPQ DLLRRKGIDD ALFKDSEILR KSSNLDKDSS
LSFQSTQVPE RRHASLATVF PSPSSDLEIP GTYTFNGSQV LARILGLEKL LKQNSTSEDI
RRELCDSYSG YIVDDAFSWT FLGRNVFNKF CLSNMTLLES SLQELNKQFS QLSSDPNNQK
IVFQEIVRML SFFSQVQEQK AVWQLLSSFP NVFQNDTSLS NLFDVLRKAN SVLLVVQKVY
PRFATNEGFR TLQKSVKHLL YTLDSPAQGD SDNITHVWNE DDGQTLSPSS LAAQLLILEN
FEDALLNISA NSPYIPYLAC VRNVTDSLAR GSPENLRLLQ STIRFKKSFL RNGSYEDYFP
PVPEVLKSKL SQLRNLTELL CESETFSLIE KSCQLSDMSF GSLCEESEFD LQLLEAAELG
TEIAASLLYH DNVISKKVRD LLTGDPSKIN LNMDQFLEQA LQMNYLENIT QLIPIIEAML
HVNNSADASE KPGQLLEMFK NVEELKEDLR RTTGMSNRTI DKLLAIPIPD NRAEIISQVF
WLHSCDTNIT TPKLEDAMKE FCNLSLSERS RQSYLIGLTL LHYLNIYNFT YKVFFPRKDQ
KPVEKMMELF IRLKEILNQM ASGTHPLLDK MRSLKQMHLP RSVPLTQAMY RSNRMNTPQG
SFSTISQALC SQGITTEYLT AMLPSSQRPK GNHTKDFLTY KLTKEQIASK YGIPINSTPF
CFSLYKDIIN MPAGPVIWAF LKPMLLGRIL YAPYNPVTKA IMEKSNVTLR QLAELREKSQ
EWMDKSPLFM NSFHLLNQAI PMLQNTLRNP FVQVFVKFSV GLDAVELLKQ IDELDILRLK
LENNIDIIDQ LNTLSSLTVN ISSCVLYDRI QAAKTIDEME REAKRLYKSN ELFGSVIFKL
PSNRSWHRGY DSGNVFLPPV IKYTIRMSLK TAQTTRSLRT KIWAPGPHNS PSHNQIYGRA
FIYLQDSIER AIIELQTGRN SQEIAVQVQA IPYPCFMKDN FLTSVSYSLP IVLMVAWVVF
IAAFVKKLVY EKDLRLHEYM KMMGVNSCSH FFAWLIESVG FLLVTIVILI IILKFGNILP
KTNGFILFLY FSDYSFSVIA MSYLISVFFN NTNIAALIGS LIYIIAFFPF IVLVTVENEL
SYVLKVFMSL LSPTAFSYAS QYIARYEEQG IGLQWENMYT SPVQDDTTSF GWLCCLILAD
SFIYFLIAWY VRNVFPGTYG MAAPWYFPIL PSYWKERFGC AEVKPEKSNG LMFTNIMMQN
TNPSASPEYM FSSNIEPEPK DLTVGVALHG VTKIYGSKVA VDNLNLNFYE GHITSLLGPN
GAGKTTTISM LTGLFGASAG TIFVYGKDIK TDLHTVRKNM GVCMQHDVLF SYLTTKEHLL
LYGSIKVPHW TKKQLHEEVK RTLKDTGLYS HRHKRVGTLS GGMKRKLSIS IALIGGSRVV
ILDEPSTGVD PCSRRSIWDV ISKNKTARTI ILSTHHLDEA EVLSDRIAFL EQGGLRCCGS
PFYLKEAFGD GYHLTLTKKK SPNLNANAVC DTMAVTAMIQ SHLPEAYLKE DIGGELVYVL
PPFSTKVSGA YLSLLRALDN GMGDLNIGCY GISDTTVEEV FLNLTKESQK NSAMSLEHLT
QKKIGNSNAN GISTPDDLSV SSSNFTDRDD KILTRGERLD GFGLLLKKIM AILIKRFHHT
RRNWKGLIAQ VILPIVFVTT AMGLGTLRNS SNSYPEIQIS PSLYGTSEQT AFYANYHPST
EALVSAMWDF PGIDNMCLNT SDLQCLNKDS LEKWNTSGEP ITNFGVCSCS ENVQECPKFN
YSPPHRRTYS SQVIYNLTGQ RVENYLISTA NEFVQKRYGG WSFGLPLTKD LRFDITGVPA
NRTLAKVWYD PEGYHSLPAY LNSLNNFLLR VNMSKYDAAR HGIIMYSHPY PGVQDQEQAT
ISSLIDILVA LSILMGYSVT TASFVTYVVR EHQTKAKQLQ HISGIGVTCY WVTNFIYDMV
FYLVPVAFSI GIIAIFKLPA FYSENNLGAV SLLLLLFGYA TFSWMYLLAG LFHETGMAFI
TYVCVNLFFG INSIVSLSVV YFLSKEKPND PTLELISETL KRIFLIFPQF CFGYGLIELS
QQQSVLDFLK AYGVEYPNET FEMNKLGAMF VALVSQGTMF FSLRLLINES LIKKLRLFFR
KFNSSHVRET IDEDEDVRAE RLRVESGAAE FDLVQLYCLT KTYQLIHKKI IAVNNISIGI
PAGECFGLLG VNGAGKTTIF KMLTGDIIPS SGNILIRNKT GSLGHVDSHS SLVGYCPQED
ALDDLVTVEE HLYFYARVHG IPEKDIKETV HKLLRRLHLM PFKDRATSMC SYGTKRKLST
ALALIGKPSI LLLDEPSSGM DPKSKRHLWK IISEEVQNKC SVILTSHSME ECEALCTRLA
IMVNGKFQCI GSLQHIKSRF GRGFTVKVHL KNNKVTMETL TKFMQLHFPK TYLKDQHLSM
LEYHVPVTAG GVANIFDLLE TNKTALNITN FLVSQTTLEE VFINFAKDQK SYETADTSSQ
GSTISVDSQD DQMES*

mutated AA sequence

MASLFHQLQI LVWKNWLGVK RQPLWTLVLI LWPVIIFIIL AITRTKFPPT AKPTCYLAPR
NLPSTGFFPF LQTLLCDTDS KCKDTPYGPQ DLLRRKGIDD ALFKDSEILR KSSNLDKDSS
LSFQSTQVPE RRHASLATVF PSPSSDLEIP GTYTFNGSQV LARILGLEKL LKQNSTSEDI
RRELCDSYSG YIVDDAFSWT FLGRNVFNKF CLSNMTLLES SLQELNKQFS QLSSDPNNQK
IVFQEIVRML SFFSQVQEQK AVWQLLSSFP NVFQNDTSLS NLFDVLRKAN SVLLVVQKVY
PRFATNEGFR TLQKSVKHLL YTLDSPAQGD SDNITHVWNE DDGQTLSPSS LAAQLLILEN
FEDALLNISA NSPYIPYLAC VRNVTDSLAR GSPENLRLLQ STIRFKKSFL RNGSYEDYFP
PVPEVLKSKL SQLRNLTELL CESETFSLIE KSCQLSDMSF GSLCEESEFD LQLLEAAELG
TEIAASLLYH DNVISKKVRD LLTGDPSKIN LNMDQFLEQA LQMNYLENIT QLIPIIEAML
HVNNSADASE KPGQLLEMFK NVEELKEDLR RTTGMSNRTI DKLLAIPIPD NRAEIISQVF
WLHSCDTNIT TPKLEDAMKE FCNLSLSERS RQSYLIGLTL LHYLNIYNFT YKVFFPRKDQ
KPVEKMMELF IRLKEILNQM ASGTHPLLDK MRSLKQMHLP RSVPLTQAMY RSNRMNTPQG
SFSTISQALC SQGITTEYLT AMLPSSQRPK GNHTKDFLTY KLTKEQIASK YGIPINSTPF
CFSLYKDIIN MPAGPVIWAF LKPMLLGRIL YAPYNPVTKA IMEKSNVTLR QLAELREKSQ
EWMDKSPLFM NSFHLLNQAI PMLQNTLRNP FVQVFVKFSV GLDAVELLKQ IDELDILRLK
LENNIDIIDQ LNTLSSLTVN ISSCVLYDRI QAAKTIDEME REAKRLYKSN ELFGSVIFKL
PSNRSWHRGY DSGNVFLPPV IKYTIRMSLK TAQTTRSLRT KIWAPGPHNS PSHNQIYGRA
FIYLQDSIER AIIELQTGRN SQEIAVQVQA IPYPCFMKDN FLTSVSYSLP IVLMVAWVVF
IAAFVKKLVY EKDLRLHEYM KMMGVNSCSH FFAWLIESVG FLLVTIVILI IILKFGNILP
KTNGFILFLY FSDYSFSVIA MSYLISVFFN NTNIAALIGS LIYIIAFFPF IVLVTVENEL
SYVLKVFMSL LSPTAFSYAS QYIARYEEQG IGLQWENMYT SPVQDDTTSF GWLCCLILAD
SFIYFLIAWY VRNVFPGTYG MAAPWYFPIL PSYWKERFGC AEVKPEKSNG LMFTNIMMQN
TNPSASPEYM FSSNIEPEPK DLTVGVALHG VTKIYGSKVA VDNLNLNFYE GHITSLLGPS
GAGKTTTISM LTGLFGASAG TIFVYGKDIK TDLHTVRKNM GVCMQHDVLF SYLTTKEHLL
LYGSIKVPHW TKKQLHEEVK RTLKDTGLYS HRHKRVGTLS GGMKRKLSIS IALIGGSRVV
ILDEPSTGVD PCSRRSIWDV ISKNKTARTI ILSTHHLDEA EVLSDRIAFL EQGGLRCCGS
PFYLKEAFGD GYHLTLTKKK SPNLNANAVC DTMAVTAMIQ SHLPEAYLKE DIGGELVYVL
PPFSTKVSGA YLSLLRALDN GMGDLNIGCY GISDTTVEEV FLNLTKESQK NSAMSLEHLT
QKKIGNSNAN GISTPDDLSV SSSNFTDRDD KILTRGERLD GFGLLLKKIM AILIKRFHHT
RRNWKGLIAQ VILPIVFVTT AMGLGTLRNS SNSYPEIQIS PSLYGTSEQT AFYANYHPST
EALVSAMWDF PGIDNMCLNT SDLQCLNKDS LEKWNTSGEP ITNFGVCSCS ENVQECPKFN
YSPPHRRTYS SQVIYNLTGQ RVENYLISTA NEFVQKRYGG WSFGLPLTKD LRFDITGVPA
NRTLAKVWYD PEGYHSLPAY LNSLNNFLLR VNMSKYDAAR HGIIMYSHPY PGVQDQEQAT
ISSLIDILVA LSILMGYSVT TASFVTYVVR EHQTKAKQLQ HISGIGVTCY WVTNFIYDMV
FYLVPVAFSI GIIAIFKLPA FYSENNLGAV SLLLLLFGYA TFSWMYLLAG LFHETGMAFI
TYVCVNLFFG INSIVSLSVV YFLSKEKPND PTLELISETL KRIFLIFPQF CFGYGLIELS
QQQSVLDFLK AYGVEYPNET FEMNKLGAMF VALVSQGTMF FSLRLLINES LIKKLRLFFR
KFNSSHVRET IDEDEDVRAE RLRVESGAAE FDLVQLYCLT KTYQLIHKKI IAVNNISIGI
PAGECFGLLG VNGAGKTTIF KMLTGDIIPS SGNILIRNKT GSLGHVDSHS SLVGYCPQED
ALDDLVTVEE HLYFYARVHG IPEKDIKETV HKLLRRLHLM PFKDRATSMC SYGTKRKLST
ALALIGKPSI LLLDEPSSGM DPKSKRHLWK IISEEVQNKC SVILTSHSME ECEALCTRLA
IMVNGKFQCI GSLQHIKSRF GRGFTVKVHL KNNKVTMETL TKFMQLHFPK TYLKDQHLSM
LEYHVPVTAG GVANIFDLLE TNKTALNITN FLVSQTTLEE VFINFAKDQK SYETADTSSQ
GSTISVDSQD DQMES*

speed

0.48 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems