Yum, tasty mutations...

MutationTaster - study a chromosomal position

MTQE documentation
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 3.56 s - this script 6.749535 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ABCA12disease_causing_automatic0.999999949736451simple_aaeaffected0G1063Esingle base exchangers28940268show file
ABCA12disease_causing_automatic0.999999996920238simple_aaeaffected0G1381Esingle base exchangers28940268show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999949736451 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032166)
  • known disease mutation: rs2854 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:215851287C>TN/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.3188G>A
cDNA.3347G>A
g.151865G>A
AA changes G1063E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1063
frameshift no
known variant Reference ID: rs28940268
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs2854 (pathogenic for Autosomal recessive congenital ichthyosis 4A) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032166)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032166)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032166)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.8211
6.2071
(flanking)6.2071
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased151870wt: 0.26 / mu: 0.54wt: GAGCTGGGAAAACTA
mu: AAGCTGGGAAAACTA
 GCTG|ggaa
Donor increased151866wt: 0.59 / mu: 0.84wt: AATGGAGCTGGGAAA
mu: AATGAAGCTGGGAAA
 TGGA|gctg
Donor increased151869wt: 0.43 / mu: 0.72wt: GGAGCTGGGAAAACT
mu: GAAGCTGGGAAAACT
 AGCT|ggga
Donor marginally increased151861wt: 0.9654 / mu: 0.9957 (marginal change - not scored)wt: GGCCCAATGGAGCTG
mu: GGCCCAATGAAGCTG
 CCCA|atgg
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1063EGHITSLLGPNGAGKTTTISMLTG
mutated  not conserved    1063EGHITSLLGPNEAGKTTTISMLT
Ptroglodytes  all identical  ENSPTRG00000012889  1381EGHITSLLGPNGAGKTTTISMLT
Mmulatta  all identical  ENSMMUG00000014813  1360EGHITSLLGPNGAGKTTTISMLT
Fcatus  no alignment  ENSFCAG00000009215  n/a
Mmusculus  all identical  ENSMUSG00000050296  1381EGHITSLLGPNGAGKTTTISMLT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000074749  597LGHNGAGKTTTMSLLT
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
10651085TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
11121132TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
11451165TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
11701170CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
11741194TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
12001220TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
12501270TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
13461577DOMAINABC transporter 1.might get lost (downstream of altered splice site)
13781385NP_BINDATP 1 (Potential).might get lost (downstream of altered splice site)
15241524CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16631663CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17041704CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17471767TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
17691769CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18191819CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18351835CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18761876CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
19211921CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
19521952CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
19791999TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
20352055TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
20722092TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
20792079CONFLICTY -> H (in Ref. 1; AAP21093).might get lost (downstream of altered splice site)
21032123TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
21782178CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
21872207TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
22082208CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
22232223CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
22542489DOMAINABC transporter 2.might get lost (downstream of altered splice site)
22702290TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
22902297NP_BINDATP 2 (Potential).might get lost (downstream of altered splice site)
23182318CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
25422542CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
25472547CARBOHYDN-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 2
strand -1
last intron/exon boundary 6886
theoretical NMD boundary in CDS 6676
length of CDS 6834
coding sequence (CDS) position 3188
cDNA position
(for ins/del: last normal base / first normal base)
3347
gDNA position
(for ins/del: last normal base / first normal base)
151865
chromosomal position
(for ins/del: last normal base / first normal base)
215851287
original gDNA sequence snippet TTCATTGCTGGGGCCCAATGGAGCTGGGAAAACTACTACCA
altered gDNA sequence snippet TTCATTGCTGGGGCCCAATGAAGCTGGGAAAACTACTACCA
original cDNA sequence snippet TTCATTGCTGGGGCCCAATGGAGCTGGGAAAACTACTACCA
altered cDNA sequence snippet TTCATTGCTGGGGCCCAATGAAGCTGGGAAAACTACTACCA
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 PNEAGKTTTI 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 1.57 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
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999996920238 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM032166)
  • known disease mutation: rs2854 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:215851287C>TN/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.4142G>A
cDNA.4362G>A
g.151865G>A
AA changes G1381E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1381
frameshift no
known variant Reference ID: rs28940268
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs2854 (pathogenic for Autosomal recessive congenital ichthyosis 4A) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032166)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032166)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032166)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.8211
6.2071
(flanking)6.2071
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased151870wt: 0.26 / mu: 0.54wt: GAGCTGGGAAAACTA
mu: AAGCTGGGAAAACTA
 GCTG|ggaa
Donor increased151866wt: 0.59 / mu: 0.84wt: AATGGAGCTGGGAAA
mu: AATGAAGCTGGGAAA
 TGGA|gctg
Donor increased151869wt: 0.43 / mu: 0.72wt: GGAGCTGGGAAAACT
mu: GAAGCTGGGAAAACT
 AGCT|ggga
Donor marginally increased151861wt: 0.9654 / mu: 0.9957 (marginal change - not scored)wt: GGCCCAATGGAGCTG
mu: GGCCCAATGAAGCTG
 CCCA|atgg
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1381EGHITSLLGPNGAGKTTTISMLTG
mutated  not conserved    1381EAGKTTTISMLT
Ptroglodytes  all identical  ENSPTRG00000012889  1381GAGKTTTISMLT
Mmulatta  all identical  ENSMMUG00000014813  1360EGHITSLLGPNGAGKTTTISMLT
Fcatus  no alignment  ENSFCAG00000009215  n/a
Mmusculus  all identical  ENSMUSG00000050296  1381GPNGAGKTTTISMLT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000074749  597LGHNGAGKTTTMSLLT
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
13461577DOMAINABC transporter 1.lost
13781385NP_BINDATP 1 (Potential).lost
15241524CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
16631663CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17041704CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
17471767TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
17691769CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18191819CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18351835CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
18761876CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
19211921CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
19521952CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
19791999TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
20352055TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
20722092TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
20792079CONFLICTY -> H (in Ref. 1; AAP21093).might get lost (downstream of altered splice site)
21032123TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
21782178CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
21872207TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
22082208CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
22232223CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
22542489DOMAINABC transporter 2.might get lost (downstream of altered splice site)
22702290TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
22902297NP_BINDATP 2 (Potential).might get lost (downstream of altered splice site)
23182318CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
25422542CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
25472547CARBOHYDN-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 2
strand -1
last intron/exon boundary 7901
theoretical NMD boundary in CDS 7630
length of CDS 7788
coding sequence (CDS) position 4142
cDNA position
(for ins/del: last normal base / first normal base)
4362
gDNA position
(for ins/del: last normal base / first normal base)
151865
chromosomal position
(for ins/del: last normal base / first normal base)
215851287
original gDNA sequence snippet TTCATTGCTGGGGCCCAATGGAGCTGGGAAAACTACTACCA
altered gDNA sequence snippet TTCATTGCTGGGGCCCAATGAAGCTGGGAAAACTACTACCA
original cDNA sequence snippet TTCATTGCTGGGGCCCAATGGAGCTGGGAAAACTACTACCA
altered cDNA sequence snippet TTCATTGCTGGGGCCCAATGAAGCTGGGAAAACTACTACCA
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 GHITSLLGPN
EAGKTTTISM 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 1.99 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
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Problems