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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000374201
Querying Taster for transcript #2: ENST00000305531
Querying Taster for transcript #3: ENST00000407470
MT speed 4.34 s - this script 8.138199 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FRMPD2polymorphism4.01501054625442e-12simple_aaeaffectedG912Esingle base exchangers61840030show file
FRMPD2polymorphism4.01501054625442e-12simple_aaeaffectedG887Esingle base exchangers61840030show file
FRMPD2polymorphism4.01501054625442e-12simple_aaeaffectedG880Esingle base exchangers61840030show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999995985      (explain)
Summary
  • amino acid sequence changed
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:49388901C>TN/A show variant in all transcripts   IGV
HGNC symbol FRMPD2
Ensembl transcript ID ENST00000374201
Genbank transcript ID NM_001018071
UniProt peptide Q68DX3
alteration type single base exchange
alteration region CDS
DNA changes c.2735G>A
cDNA.3038G>A
g.94041G>A
AA changes G912E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS
912
frameshift no
known variant Reference ID: rs61840030
Allele 'T' was neither found in ExAC nor 1000G.
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.280
-3.0840
(flanking)0.6140
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased94044wt: 0.61 / mu: 0.83wt: TGGGGTGCAGAGCTT
mu: TGAGGTGCAGAGCTT
 GGGT|gcag
Donor gained940370.55mu: ACATGGCTGAGGTGC ATGG|ctga
Donor gained940360.86mu: GACATGGCTGAGGTG CATG|gctg
distance from splice site 56
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      912QDRNTEELDMAGVQSLVPRLRHQL
mutated  not conserved    912QDRNTEELDMAEVQSLVPRLRHQ
Ptroglodytes  all identical  ENSPTRG00000002477  912QDRNTEELDMAGVQSLVPRLRHQ
Mmulatta  all identical  ENSMMUG00000004056  900DMAGVKSLVPRLRHQ
Fcatus  not conserved  ENSFCAG00000006974  912QEKNTEELEMAQTQSLLSRVR-P
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000074119  830V---MMTPKASNR
Dmelanogaster  no homologue    
Celegans  no alignment  Y38C1AB.8  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
9501035DOMAINPDZ 2.might get lost (downstream of altered splice site)
955955MUTAGENK->E: Abolishes the basolateral membrane localization.might get lost (downstream of altered splice site)
969969CONFLICTN -> M (in Ref. 5; AAH73954/AAI44636/ AAI44640).might get lost (downstream of altered splice site)
10771077CONFLICTK -> N (in Ref. 1; AAS79660).might get lost (downstream of altered splice site)
10791167DOMAINPDZ 3.might get lost (downstream of altered splice site)
11741174CONFLICTL -> M (in Ref. 2; BAC85520).might get lost (downstream of altered splice site)
12141214CONFLICTS -> F (in Ref. 1; AAS79660).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3930 / 3930
position (AA) of stopcodon in wt / mu AA sequence 1310 / 1310
position of stopcodon in wt / mu cDNA 4233 / 4233
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 304 / 304
chromosome 10
strand -1
last intron/exon boundary 4185
theoretical NMD boundary in CDS 3831
length of CDS 3930
coding sequence (CDS) position 2735
cDNA position
(for ins/del: last normal base / first normal base)
3038
gDNA position
(for ins/del: last normal base / first normal base)
94041
chromosomal position
(for ins/del: last normal base / first normal base)
49388901
original gDNA sequence snippet TGAAGAACTAGACATGGCTGGGGTGCAGAGCTTAGTGCCCA
altered gDNA sequence snippet TGAAGAACTAGACATGGCTGAGGTGCAGAGCTTAGTGCCCA
original cDNA sequence snippet TGAAGAACTAGACATGGCTGGGGTGCAGAGCTTAGTGCCCA
altered cDNA sequence snippet TGAAGAACTAGACATGGCTGAGGTGCAGAGCTTAGTGCCCA
wildtype AA sequence MQPLTKDAGM SLSSVTLASA LQVRGEALSE EEIWSLLFLA AEQLLEDLRN DSSDYVVCPW
SALLSAAGSL SFQGRVSHIE AAPFKAPELL QGQSEDEQPD ASQMHVYSLG MTLYWSAGFH
VPPHQPLQLC EPLHSILLTM CEDQPHRRCT LQSVLEACRV HEKEVSVYPA PAGLHIRRLV
GLVLGTISEV EKRVVEESSS VQQNRSYLLR KRLRGTSSES PAAQAPECLH PCRVSERSTE
TQSSPEPHWS TLTHSHCSLL VNRALPGADP QDQQAGRRLS SGSVHSAADS SWPTTPSQRG
FLQRRSKFSR PEFILLAGEA PMTLHLPGSV VTKKGKSYLA LRDLCVVLLN GQHLEVKCDV
ESTVGAVFNA VTSFANLEEL TYFGLAYMKS KEFFFLDSET RLCKIAPEGW REQPQKTSMN
TFTLFLRIKF FVSHYGLLQH SLTRHQFYLQ LRKDILEERL YCNEEILLQL GVLALQAEFG
NYPKEQVESK PYFHVEDYIP ASLIERMTAL RVQVEVSEMH RLSSALWGED AELKFLRVTQ
QLPEYGVLVH QVFSEKRRPE EEMALGICAK GVIVYEVKNN SRIAMLRFQW RETGKISTYQ
KKFTITSSVT GKKHTFVTDS AKTSKYLLDL CSAQHGFNAQ MGSGQPSHVL FDHDKFVQMA
NLSPAHQARS KPLIWIQRLS CSENELFVSR LQGAAGGLLS TSMDNFNVDG SKEAGAEGIG
RSPCTGREQL KSACVIQKPM TWDSLSGPPV QSMHAGSKNN RRKSFIAEPG REIVRVTLKR
DPHRGFGFVI NEGEYSGQAD PGIFISSIIP GGPAEKAKTI KPGGQILALN HISLEGFTFN
MAVRMIQNSP DNIELIISQS KGVGGNNPDE EKNSTANSGV SSTDILSFGY QGSLLSHTQD
QDRNTEELDM AGVQSLVPRL RHQLSFLPLK GAGSSCPPSP PEISAGEIYF VELVKEDGTL
GFSVTGGINT SVPYGGIYVK SIVPGGPAAK EGQILQGDRL LQVDGVILCG LTHKQAVQCL
TGPGQVARLV LERRVPRSTQ QCPSANDSMG DERTAVSLVT ALPGRPSSCV SVTDGPKFEV
KLKKNANGLG FSFVQMEKES CSHLKSDLVR IKRLFPGQPA EENGAIAAGD IILAVNGRST
EGLIFQEVLH LLRGAPQEVT LLLCRPPPGA LPELEQEWQT PELSADKEFT RATCTDSCTS
PILDQEDSWR DSASPDAGEG LGLRPESSQK AIREAQWGQN RERPWASSLT HSPESHPHLC
KLHQERDEST LATSLEKDVR QNCYSVCDIM RLGRYSFSSP LTRLSTDIF*
mutated AA sequence MQPLTKDAGM SLSSVTLASA LQVRGEALSE EEIWSLLFLA AEQLLEDLRN DSSDYVVCPW
SALLSAAGSL SFQGRVSHIE AAPFKAPELL QGQSEDEQPD ASQMHVYSLG MTLYWSAGFH
VPPHQPLQLC EPLHSILLTM CEDQPHRRCT LQSVLEACRV HEKEVSVYPA PAGLHIRRLV
GLVLGTISEV EKRVVEESSS VQQNRSYLLR KRLRGTSSES PAAQAPECLH PCRVSERSTE
TQSSPEPHWS TLTHSHCSLL VNRALPGADP QDQQAGRRLS SGSVHSAADS SWPTTPSQRG
FLQRRSKFSR PEFILLAGEA PMTLHLPGSV VTKKGKSYLA LRDLCVVLLN GQHLEVKCDV
ESTVGAVFNA VTSFANLEEL TYFGLAYMKS KEFFFLDSET RLCKIAPEGW REQPQKTSMN
TFTLFLRIKF FVSHYGLLQH SLTRHQFYLQ LRKDILEERL YCNEEILLQL GVLALQAEFG
NYPKEQVESK PYFHVEDYIP ASLIERMTAL RVQVEVSEMH RLSSALWGED AELKFLRVTQ
QLPEYGVLVH QVFSEKRRPE EEMALGICAK GVIVYEVKNN SRIAMLRFQW RETGKISTYQ
KKFTITSSVT GKKHTFVTDS AKTSKYLLDL CSAQHGFNAQ MGSGQPSHVL FDHDKFVQMA
NLSPAHQARS KPLIWIQRLS CSENELFVSR LQGAAGGLLS TSMDNFNVDG SKEAGAEGIG
RSPCTGREQL KSACVIQKPM TWDSLSGPPV QSMHAGSKNN RRKSFIAEPG REIVRVTLKR
DPHRGFGFVI NEGEYSGQAD PGIFISSIIP GGPAEKAKTI KPGGQILALN HISLEGFTFN
MAVRMIQNSP DNIELIISQS KGVGGNNPDE EKNSTANSGV SSTDILSFGY QGSLLSHTQD
QDRNTEELDM AEVQSLVPRL RHQLSFLPLK GAGSSCPPSP PEISAGEIYF VELVKEDGTL
GFSVTGGINT SVPYGGIYVK SIVPGGPAAK EGQILQGDRL LQVDGVILCG LTHKQAVQCL
TGPGQVARLV LERRVPRSTQ QCPSANDSMG DERTAVSLVT ALPGRPSSCV SVTDGPKFEV
KLKKNANGLG FSFVQMEKES CSHLKSDLVR IKRLFPGQPA EENGAIAAGD IILAVNGRST
EGLIFQEVLH LLRGAPQEVT LLLCRPPPGA LPELEQEWQT PELSADKEFT RATCTDSCTS
PILDQEDSWR DSASPDAGEG LGLRPESSQK AIREAQWGQN RERPWASSLT HSPESHPHLC
KLHQERDEST LATSLEKDVR QNCYSVCDIM RLGRYSFSSP LTRLSTDIF*
speed 0.88 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

polymorphism

Model: simple_aae, prob: 0.999999999995985      (explain)
Summary
  • amino acid sequence changed
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:49388901C>TN/A show variant in all transcripts   IGV
HGNC symbol FRMPD2
Ensembl transcript ID ENST00000305531
Genbank transcript ID N/A
UniProt peptide Q68DX3
alteration type single base exchange
alteration region CDS
DNA changes c.2660G>A
cDNA.2707G>A
g.94041G>A
AA changes G887E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS
887
frameshift no
known variant Reference ID: rs61840030
Allele 'T' was neither found in ExAC nor 1000G.
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.280
-3.0840
(flanking)0.6140
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased94044wt: 0.61 / mu: 0.83wt: TGGGGTGCAGAGCTT
mu: TGAGGTGCAGAGCTT
 GGGT|gcag
Donor gained940370.55mu: ACATGGCTGAGGTGC ATGG|ctga
Donor gained940360.86mu: GACATGGCTGAGGTG CATG|gctg
distance from splice site 56
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      887QDRNTEELDMAGVQSLVPRLRHQL
mutated  not conserved    887QDRNTEELDMAEVQSLVPRLRHQ
Ptroglodytes  all identical  ENSPTRG00000002477  912DMAGVQSLVPRLRHQ
Mmulatta  all identical  ENSMMUG00000004056  900DMAGVKSLVPRLRHQ
Fcatus  not conserved  ENSFCAG00000006974  912TEELEMAQTQSLLSRVR-P
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000074119  830---MMTPKASNR
Dmelanogaster  no homologue    
Celegans  no alignment  Y38C1AB.8  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
895895CONFLICTL -> S (in Ref. 2; BAC85520).might get lost (downstream of altered splice site)
9501035DOMAINPDZ 2.might get lost (downstream of altered splice site)
955955MUTAGENK->E: Abolishes the basolateral membrane localization.might get lost (downstream of altered splice site)
969969CONFLICTN -> M (in Ref. 5; AAH73954/AAI44636/ AAI44640).might get lost (downstream of altered splice site)
10771077CONFLICTK -> N (in Ref. 1; AAS79660).might get lost (downstream of altered splice site)
10791167DOMAINPDZ 3.might get lost (downstream of altered splice site)
11741174CONFLICTL -> M (in Ref. 2; BAC85520).might get lost (downstream of altered splice site)
12141214CONFLICTS -> F (in Ref. 1; AAS79660).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3855 / 3855
position (AA) of stopcodon in wt / mu AA sequence 1285 / 1285
position of stopcodon in wt / mu cDNA 3902 / 3902
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 48 / 48
chromosome 10
strand -1
last intron/exon boundary 3854
theoretical NMD boundary in CDS 3756
length of CDS 3855
coding sequence (CDS) position 2660
cDNA position
(for ins/del: last normal base / first normal base)
2707
gDNA position
(for ins/del: last normal base / first normal base)
94041
chromosomal position
(for ins/del: last normal base / first normal base)
49388901
original gDNA sequence snippet TGAAGAACTAGACATGGCTGGGGTGCAGAGCTTAGTGCCCA
altered gDNA sequence snippet TGAAGAACTAGACATGGCTGAGGTGCAGAGCTTAGTGCCCA
original cDNA sequence snippet TGAAGAACTAGACATGGCTGGGGTGCAGAGCTTAGTGCCCA
altered cDNA sequence snippet TGAAGAACTAGACATGGCTGAGGTGCAGAGCTTAGTGCCCA
wildtype AA sequence MHVFIVGMSL SSVTLASALQ VRGEALSEEE IWSLLFLAAE QLLEDLRNDS SDYVVCPWSA
LLSAAGSLSF QGRVSHIEAA PFKAPELLQG QSEDEQPDAS QPLQLCEPLH SILLTMCEDQ
PHRRCTLQSV LEACRVHEKE VSVYPAPAGL HIRRLVGLVL GTISEVEKRV VEESSSVQQN
RSYLLRKRLR GTSSESPAAQ APECLHPCRV SERSTETQSS PEPHWSTLTH SHCSLLVNRA
LPGADPQDQQ AGRRLSSGSV HSAADSSWPT TPSQRGFLQR RSKFSRPEFI LLAGEAPMTL
HLPGSVVTKK GKSYLALRDL CVVLLNGQHL EVKCDVESTV GAVFNAVTSF ANLEELTYFG
LAYMKSKEFF FLDSETRLCK IAPEGWREQP QKTSMNTFTL FLRIKFFVSH YGLLQHSLTR
HQFYLQLRKD ILEERLYCNE EILLQLGVLA LQAEFGNYPK EVESKPYFHV EDYIPASLIE
RMTALRVQVE VSEMHRLSSA LWGEDAELKF LRVTQQLPEY GVLVHQVFSE KRRPEEEMAL
GICAKGVIVY EVKNNSRIAM LRFQWRETGK ISTYQKKFTI TSSVTGKKHT FVTDSAKTSK
YLLDLCSAQH GFNAQMGSGQ PSHVLFDHDK FVQMANLSPA HQARSKPLIW IQRLSCSENE
LFVSRLQGAA GGLLSTSMDN FNVDGSKEAG AEGIGRSPCT GREQLKSACV IQKPMTWDSL
SGPPVQSMHA GSKNNRRKSF IAEPGREIVR VTLKRDPHRG FGFVINEGEY SGQADPGIFI
SSIIPGGPAE KAKTIKPGGQ ILALNHISLE GFTFNMAVRM IQNSPDNIEL IISQSKGVGG
NNPDEEKNST ANSGVSSTDI LSFGYQGSLL SHTQDQDRNT EELDMAGVQS LVPRLRHQLS
FLPLKGAGSS CPPSPPEISA GEIYFVELVK EDGTLGFSVT GGINTSVPYG GIYVKSIVPG
GPAAKEGQIL QGDRLLQVDG VILCGLTHKQ AVQCLTGPGQ VARLVLERRV PRSTQQCPSA
NDSMGDERTA VSLVTALPGR PSSCVSVTDG PKFEVKLKKN ANGLGFSFVQ MEKESCSHLK
SDLVRIKRLF PGQPAEENGA IAAGDIILAV NGRSTEGLIF QEVLHLLRGA PQEVTLLLCR
PPPGALPELE QEWQTPELSA DKEFTRATCT DSCTSPILDQ EDSWRDSASP DAGEGLGLRP
ESSQKAIREA QWGQNRERPW ASSLTHSPES HPHLCKLHQE RDESTLATSL EKDVRQNCYS
VCDIMRLGRY SFSSPLTRLS TDIF*
mutated AA sequence MHVFIVGMSL SSVTLASALQ VRGEALSEEE IWSLLFLAAE QLLEDLRNDS SDYVVCPWSA
LLSAAGSLSF QGRVSHIEAA PFKAPELLQG QSEDEQPDAS QPLQLCEPLH SILLTMCEDQ
PHRRCTLQSV LEACRVHEKE VSVYPAPAGL HIRRLVGLVL GTISEVEKRV VEESSSVQQN
RSYLLRKRLR GTSSESPAAQ APECLHPCRV SERSTETQSS PEPHWSTLTH SHCSLLVNRA
LPGADPQDQQ AGRRLSSGSV HSAADSSWPT TPSQRGFLQR RSKFSRPEFI LLAGEAPMTL
HLPGSVVTKK GKSYLALRDL CVVLLNGQHL EVKCDVESTV GAVFNAVTSF ANLEELTYFG
LAYMKSKEFF FLDSETRLCK IAPEGWREQP QKTSMNTFTL FLRIKFFVSH YGLLQHSLTR
HQFYLQLRKD ILEERLYCNE EILLQLGVLA LQAEFGNYPK EVESKPYFHV EDYIPASLIE
RMTALRVQVE VSEMHRLSSA LWGEDAELKF LRVTQQLPEY GVLVHQVFSE KRRPEEEMAL
GICAKGVIVY EVKNNSRIAM LRFQWRETGK ISTYQKKFTI TSSVTGKKHT FVTDSAKTSK
YLLDLCSAQH GFNAQMGSGQ PSHVLFDHDK FVQMANLSPA HQARSKPLIW IQRLSCSENE
LFVSRLQGAA GGLLSTSMDN FNVDGSKEAG AEGIGRSPCT GREQLKSACV IQKPMTWDSL
SGPPVQSMHA GSKNNRRKSF IAEPGREIVR VTLKRDPHRG FGFVINEGEY SGQADPGIFI
SSIIPGGPAE KAKTIKPGGQ ILALNHISLE GFTFNMAVRM IQNSPDNIEL IISQSKGVGG
NNPDEEKNST ANSGVSSTDI LSFGYQGSLL SHTQDQDRNT EELDMAEVQS LVPRLRHQLS
FLPLKGAGSS CPPSPPEISA GEIYFVELVK EDGTLGFSVT GGINTSVPYG GIYVKSIVPG
GPAAKEGQIL QGDRLLQVDG VILCGLTHKQ AVQCLTGPGQ VARLVLERRV PRSTQQCPSA
NDSMGDERTA VSLVTALPGR PSSCVSVTDG PKFEVKLKKN ANGLGFSFVQ MEKESCSHLK
SDLVRIKRLF PGQPAEENGA IAAGDIILAV NGRSTEGLIF QEVLHLLRGA PQEVTLLLCR
PPPGALPELE QEWQTPELSA DKEFTRATCT DSCTSPILDQ EDSWRDSASP DAGEGLGLRP
ESSQKAIREA QWGQNRERPW ASSLTHSPES HPHLCKLHQE RDESTLATSL EKDVRQNCYS
VCDIMRLGRY SFSSPLTRLS TDIF*
speed 1.59 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

polymorphism

Model: simple_aae, prob: 0.999999999995985      (explain)
Summary
  • amino acid sequence changed
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:49388901C>TN/A show variant in all transcripts   IGV
HGNC symbol FRMPD2
Ensembl transcript ID ENST00000407470
Genbank transcript ID N/A
UniProt peptide Q68DX3
alteration type single base exchange
alteration region CDS
DNA changes c.2639G>A
cDNA.2997G>A
g.94041G>A
AA changes G880E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS
880
frameshift no
known variant Reference ID: rs61840030
Allele 'T' was neither found in ExAC nor 1000G.
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.280
-3.0840
(flanking)0.6140
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased94044wt: 0.61 / mu: 0.83wt: TGGGGTGCAGAGCTT
mu: TGAGGTGCAGAGCTT
 GGGT|gcag
Donor gained940370.55mu: ACATGGCTGAGGTGC ATGG|ctga
Donor gained940360.86mu: GACATGGCTGAGGTG CATG|gctg
distance from splice site 56
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      880QDRNTEELDMAGVQSLVPRLRHQL
mutated  not conserved    880QDRNTEELDMAEVQSLVPRLRHQ
Ptroglodytes  all identical  ENSPTRG00000002477  912MAGVQSLVPRLRHQ
Mmulatta  all identical  ENSMMUG00000004056  900MAGVKSLVPRLRHQ
Fcatus  not conserved  ENSFCAG00000006974  912EELEMAQTQSLLSRVR-P
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000074119  830---MMTPKASNR
Dmelanogaster  no homologue    
Celegans  no alignment  Y38C1AB.8  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
895895CONFLICTL -> S (in Ref. 2; BAC85520).might get lost (downstream of altered splice site)
9501035DOMAINPDZ 2.might get lost (downstream of altered splice site)
955955MUTAGENK->E: Abolishes the basolateral membrane localization.might get lost (downstream of altered splice site)
969969CONFLICTN -> M (in Ref. 5; AAH73954/AAI44636/ AAI44640).might get lost (downstream of altered splice site)
10771077CONFLICTK -> N (in Ref. 1; AAS79660).might get lost (downstream of altered splice site)
10791167DOMAINPDZ 3.might get lost (downstream of altered splice site)
11741174CONFLICTL -> M (in Ref. 2; BAC85520).might get lost (downstream of altered splice site)
12141214CONFLICTS -> F (in Ref. 1; AAS79660).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3834 / 3834
position (AA) of stopcodon in wt / mu AA sequence 1278 / 1278
position of stopcodon in wt / mu cDNA 4192 / 4192
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 359 / 359
chromosome 10
strand -1
last intron/exon boundary 4144
theoretical NMD boundary in CDS 3735
length of CDS 3834
coding sequence (CDS) position 2639
cDNA position
(for ins/del: last normal base / first normal base)
2997
gDNA position
(for ins/del: last normal base / first normal base)
94041
chromosomal position
(for ins/del: last normal base / first normal base)
49388901
original gDNA sequence snippet TGAAGAACTAGACATGGCTGGGGTGCAGAGCTTAGTGCCCA
altered gDNA sequence snippet TGAAGAACTAGACATGGCTGAGGTGCAGAGCTTAGTGCCCA
original cDNA sequence snippet TGAAGAACTAGACATGGCTGGGGTGCAGAGCTTAGTGCCCA
altered cDNA sequence snippet TGAAGAACTAGACATGGCTGAGGTGCAGAGCTTAGTGCCCA
wildtype AA sequence MSLSSVTLAS ALQVRGEALS EEEIWSLLFL AAEQLLEDLR NDSSDYVVCP WSALLSAAGS
LSFQGRVSHI EAAPFKAPEL LQGQSEDEQP DASQPLQLCE PLHSILLTMC EDQPHRRCTL
QSVLEACRVH EKEVSVYPAP AGLHIRRLVG LVLGTISEVE KRVVEESSSV QQNRSYLLRK
RLRGTSSESP AAQAPECLHP CRVSERSTET QSSPEPHWST LTHSHCSLLV NRALPGADPQ
DQQAGRRLSS GSVHSAADSS WPTTPSQRGF LQRRSKFSRP EFILLAGEAP MTLHLPGSVV
TKKGKSYLAL RDLCVVLLNG QHLEVKCDVE STVGAVFNAV TSFANLEELT YFGLAYMKSK
EFFFLDSETR LCKIAPEGWR EQPQKTSMNT FTLFLRIKFF VSHYGLLQHS LTRHQFYLQL
RKDILEERLY CNEEILLQLG VLALQAEFGN YPKEVESKPY FHVEDYIPAS LIERMTALRV
QVEVSEMHRL SSALWGEDAE LKFLRVTQQL PEYGVLVHQV FSEKRRPEEE MALGICAKGV
IVYEVKNNSR IAMLRFQWRE TGKISTYQKK FTITSSVTGK KHTFVTDSAK TSKYLLDLCS
AQHGFNAQMG SGQPSHVLFD HDKFVQMANL SPAHQARSKP LIWIQRLSCS ENELFVSRLQ
GAAGGLLSTS MDNFNVDGSK EAGAEGIGRS PCTGREQLKS ACVIQKPMTW DSLSGPPVQS
MHAGSKNNRR KSFIAEPGRE IVRVTLKRDP HRGFGFVINE GEYSGQADPG IFISSIIPGG
PAEKAKTIKP GGQILALNHI SLEGFTFNMA VRMIQNSPDN IELIISQSKG VGGNNPDEEK
NSTANSGVSS TDILSFGYQG SLLSHTQDQD RNTEELDMAG VQSLVPRLRH QLSFLPLKGA
GSSCPPSPPE ISAGEIYFVE LVKEDGTLGF SVTGGINTSV PYGGIYVKSI VPGGPAAKEG
QILQGDRLLQ VDGVILCGLT HKQAVQCLTG PGQVARLVLE RRVPRSTQQC PSANDSMGDE
RTAVSLVTAL PGRPSSCVSV TDGPKFEVKL KKNANGLGFS FVQMEKESCS HLKSDLVRIK
RLFPGQPAEE NGAIAAGDII LAVNGRSTEG LIFQEVLHLL RGAPQEVTLL LCRPPPGALP
ELEQEWQTPE LSADKEFTRA TCTDSCTSPI LDQEDSWRDS ASPDAGEGLG LRPESSQKAI
REAQWGQNRE RPWASSLTHS PESHPHLCKL HQERDESTLA TSLEKDVRQN CYSVCDIMRL
GRYSFSSPLT RLSTDIF*
mutated AA sequence MSLSSVTLAS ALQVRGEALS EEEIWSLLFL AAEQLLEDLR NDSSDYVVCP WSALLSAAGS
LSFQGRVSHI EAAPFKAPEL LQGQSEDEQP DASQPLQLCE PLHSILLTMC EDQPHRRCTL
QSVLEACRVH EKEVSVYPAP AGLHIRRLVG LVLGTISEVE KRVVEESSSV QQNRSYLLRK
RLRGTSSESP AAQAPECLHP CRVSERSTET QSSPEPHWST LTHSHCSLLV NRALPGADPQ
DQQAGRRLSS GSVHSAADSS WPTTPSQRGF LQRRSKFSRP EFILLAGEAP MTLHLPGSVV
TKKGKSYLAL RDLCVVLLNG QHLEVKCDVE STVGAVFNAV TSFANLEELT YFGLAYMKSK
EFFFLDSETR LCKIAPEGWR EQPQKTSMNT FTLFLRIKFF VSHYGLLQHS LTRHQFYLQL
RKDILEERLY CNEEILLQLG VLALQAEFGN YPKEVESKPY FHVEDYIPAS LIERMTALRV
QVEVSEMHRL SSALWGEDAE LKFLRVTQQL PEYGVLVHQV FSEKRRPEEE MALGICAKGV
IVYEVKNNSR IAMLRFQWRE TGKISTYQKK FTITSSVTGK KHTFVTDSAK TSKYLLDLCS
AQHGFNAQMG SGQPSHVLFD HDKFVQMANL SPAHQARSKP LIWIQRLSCS ENELFVSRLQ
GAAGGLLSTS MDNFNVDGSK EAGAEGIGRS PCTGREQLKS ACVIQKPMTW DSLSGPPVQS
MHAGSKNNRR KSFIAEPGRE IVRVTLKRDP HRGFGFVINE GEYSGQADPG IFISSIIPGG
PAEKAKTIKP GGQILALNHI SLEGFTFNMA VRMIQNSPDN IELIISQSKG VGGNNPDEEK
NSTANSGVSS TDILSFGYQG SLLSHTQDQD RNTEELDMAE VQSLVPRLRH QLSFLPLKGA
GSSCPPSPPE ISAGEIYFVE LVKEDGTLGF SVTGGINTSV PYGGIYVKSI VPGGPAAKEG
QILQGDRLLQ VDGVILCGLT HKQAVQCLTG PGQVARLVLE RRVPRSTQQC PSANDSMGDE
RTAVSLVTAL PGRPSSCVSV TDGPKFEVKL KKNANGLGFS FVQMEKESCS HLKSDLVRIK
RLFPGQPAEE NGAIAAGDII LAVNGRSTEG LIFQEVLHLL RGAPQEVTLL LCRPPPGALP
ELEQEWQTPE LSADKEFTRA TCTDSCTSPI LDQEDSWRDS ASPDAGEGLG LRPESSQKAI
REAQWGQNRE RPWASSLTHS PESHPHLCKL HQERDESTLA TSLEKDVRQN CYSVCDIMRL
GRYSFSSPLT RLSTDIF*
speed 1.87 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