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: ENST00000331782
Querying Taster for transcript #2: ENST00000347004
MT speed 0 s - this script 3.614436 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
JAG2polymorphism_automatic1.0370264266979e-05simple_aaeaffectedE501Ksingle base exchangers1057744show file
JAG2polymorphism_automatic1.0370264266979e-05simple_aaeaffectedE463Ksingle base exchangers1057744show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999989629735733 (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) chr14:105617042C>TN/A show variant in all transcripts   IGV
HGNC symbol JAG2
Ensembl transcript ID ENST00000331782
Genbank transcript ID NM_002226
UniProt peptide Q9Y219
alteration type single base exchange
alteration region CDS
DNA changes c.1501G>A
cDNA.1905G>A
g.18120G>A
AA changes E501K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 501
frameshift no
known variant Reference ID: rs1057744
databasehomozygous (T/T)heterozygousallele carriers
1000G78610331819
ExAC3558740710965
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7220.542
-0.0880.017
(flanking)-0.2960.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased18111wt: 0.28 / mu: 0.38wt: AGCTGGAACGAGACG
mu: AGCTGGAACGAGACA		 CTGG|aacg
Donor marginally increased18116wt: 0.9963 / mu: 0.9985 (marginal change - not scored)wt: GAACGAGACGAGTGT
mu: GAACGAGACAAGTGT		 ACGA|gacg
Donor increased18118wt: 0.76 / mu: 0.87wt: ACGAGACGAGTGTGC
mu: ACGAGACAAGTGTGC		 GAGA|cgag
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      501FGGRHCELERDECASSPCHSGGLC
mutated  all conserved    501FGGRHCELERDKCASSPCHSGGL
Ptroglodytes  all identical  ENSPTRG00000006784  252----------DECASNPCAAGGT
Mmulatta  all identical  ENSMMUG00000001276  362DECASSPCHSGGL
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000002799  501FGGRHCELEYDKCASSPCRRGGI
Ggallus  all identical  ENSGALG00000011696  470FTGKNCEIETNECE
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000021389  494LHCEVSRNKCASGPCQNGGR
Dmelanogaster  all identical  FBgn0004197  650ECATSPCRNGGE
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
271080TOPO_DOMExtracellular (Potential).lost
498534DOMAINEGF-like 8.lost
502502DISULFIDBy similarity.might get lost (downstream of altered splice site)
507507DISULFIDBy similarity.might get lost (downstream of altered splice site)
513513DISULFIDBy similarity.might get lost (downstream of altered splice site)
522522DISULFIDBy similarity.might get lost (downstream of altered splice site)
524524DISULFIDBy similarity.might get lost (downstream of altered splice site)
533533DISULFIDBy similarity.might get lost (downstream of altered splice site)
536572DOMAINEGF-like 9.might get lost (downstream of altered splice site)
540540DISULFIDBy similarity.might get lost (downstream of altered splice site)
545545DISULFIDBy similarity.might get lost (downstream of altered splice site)
551551DISULFIDBy similarity.might get lost (downstream of altered splice site)
560560DISULFIDBy similarity.might get lost (downstream of altered splice site)
562562DISULFIDBy similarity.might get lost (downstream of altered splice site)
570570CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
571571DISULFIDBy similarity.might get lost (downstream of altered splice site)
574634DOMAINEGF-like 10; atypical.might get lost (downstream of altered splice site)
589589DISULFIDPotential.might get lost (downstream of altered splice site)
606606DISULFIDPotential.might get lost (downstream of altered splice site)
612612DISULFIDPotential.might get lost (downstream of altered splice site)
619619CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
622622DISULFIDPotential.might get lost (downstream of altered splice site)
624624DISULFIDBy similarity.might get lost (downstream of altered splice site)
633633DISULFIDBy similarity.might get lost (downstream of altered splice site)
636672DOMAINEGF-like 11; calcium-binding (Potential).might get lost (downstream of altered splice site)
640640DISULFIDBy similarity.might get lost (downstream of altered splice site)
645645DISULFIDBy similarity.might get lost (downstream of altered splice site)
651651DISULFIDBy similarity.might get lost (downstream of altered splice site)
660660DISULFIDBy similarity.might get lost (downstream of altered splice site)
662662DISULFIDBy similarity.might get lost (downstream of altered splice site)
671671DISULFIDBy similarity.might get lost (downstream of altered splice site)
674710DOMAINEGF-like 12; calcium-binding (Potential).might get lost (downstream of altered splice site)
678678DISULFIDBy similarity.might get lost (downstream of altered splice site)
683683DISULFIDBy similarity.might get lost (downstream of altered splice site)
689689DISULFIDBy similarity.might get lost (downstream of altered splice site)
698698DISULFIDBy similarity.might get lost (downstream of altered splice site)
700700DISULFIDBy similarity.might get lost (downstream of altered splice site)
709709DISULFIDBy similarity.might get lost (downstream of altered splice site)
712748DOMAINEGF-like 13.might get lost (downstream of altered splice site)
716716DISULFIDBy similarity.might get lost (downstream of altered splice site)
721721DISULFIDBy similarity.might get lost (downstream of altered splice site)
727727DISULFIDBy similarity.might get lost (downstream of altered splice site)
736736DISULFIDBy similarity.might get lost (downstream of altered splice site)
738738DISULFIDBy similarity.might get lost (downstream of altered splice site)
747747DISULFIDBy similarity.might get lost (downstream of altered splice site)
751787DOMAINEGF-like 14.might get lost (downstream of altered splice site)
752752CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
755755DISULFIDBy similarity.might get lost (downstream of altered splice site)
760760DISULFIDBy similarity.might get lost (downstream of altered splice site)
766766DISULFIDBy similarity.might get lost (downstream of altered splice site)
775775DISULFIDBy similarity.might get lost (downstream of altered splice site)
777777DISULFIDBy similarity.might get lost (downstream of altered splice site)
786786DISULFIDBy similarity.might get lost (downstream of altered splice site)
789825DOMAINEGF-like 15; calcium-binding (Potential).might get lost (downstream of altered splice site)
793793DISULFIDBy similarity.might get lost (downstream of altered splice site)
798798DISULFIDBy similarity.might get lost (downstream of altered splice site)
804804DISULFIDBy similarity.might get lost (downstream of altered splice site)
813813DISULFIDBy similarity.might get lost (downstream of altered splice site)
815815DISULFIDBy similarity.might get lost (downstream of altered splice site)
824824DISULFIDBy similarity.might get lost (downstream of altered splice site)
827863DOMAINEGF-like 16; calcium-binding (Potential).might get lost (downstream of altered splice site)
831831DISULFIDBy similarity.might get lost (downstream of altered splice site)
836836DISULFIDBy similarity.might get lost (downstream of altered splice site)
842842DISULFIDBy similarity.might get lost (downstream of altered splice site)
851851DISULFIDBy similarity.might get lost (downstream of altered splice site)
853853DISULFIDBy similarity.might get lost (downstream of altered splice site)
862862DISULFIDBy similarity.might get lost (downstream of altered splice site)
870944DOMAINVWFC.might get lost (downstream of altered splice site)
10581058CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10811101TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
11021238TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
12351235CONFLICTA -> V (in Ref. 2; AAB61285).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3717 / 3717
position (AA) of stopcodon in wt / mu AA sequence 1239 / 1239
position of stopcodon in wt / mu cDNA 4121 / 4121
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 405 / 405
chromosome 14
strand -1
last intron/exon boundary 3646
theoretical NMD boundary in CDS 3191
length of CDS 3717
coding sequence (CDS) position 1501
cDNA position
(for ins/del: last normal base / first normal base)		 1905
gDNA position
(for ins/del: last normal base / first normal base)		 18120
chromosomal position
(for ins/del: last normal base / first normal base)		 105617042
original gDNA sequence snippet ATTGCGAGCTGGAACGAGACGAGTGTGCCAGCAGCCCCTGC
altered gDNA sequence snippet ATTGCGAGCTGGAACGAGACAAGTGTGCCAGCAGCCCCTGC
original cDNA sequence snippet ATTGCGAGCTGGAACGAGACGAGTGTGCCAGCAGCCCCTGC
altered cDNA sequence snippet ATTGCGAGCTGGAACGAGACAAGTGTGCCAGCAGCCCCTGC
wildtype AA sequence MRAQGRGRLP RRLLLLLALW VQAARPMGYF ELQLSALRNV NGELLSGACC DGDGRTTRAG
GCGHDECDTY VRVCLKEYQA KVTPTGPCSY GHGATPVLGG NSFYLPPAGA AGDRARARAR
AGGDQDPGLV VIPFQFAWPR SFTLIVEAWD WDNDTTPNEE LLIERVSHAG MINPEDRWKS
LHFSGHVAHL ELQIRVRCDE NYYSATCNKF CRPRNDFFGH YTCDQYGNKA CMDGWMGKEC
KEAVCKQGCN LLHGGCTVPG ECRCSYGWQG RFCDECVPYP GCVHGSCVEP WQCNCETNWG
GLLCDKDLNY CGSHHPCTNG GTCINAEPDQ YRCTCPDGYS GRNCEKAEHA CTSNPCANGG
SCHEVPSGFE CHCPSGWSGP TCALDIDECA SNPCAAGGTC VDQVDGFECI CPEQWVGATC
QLDANECEGK PCLNAFSCKN LIGGYYCDCI PGWKGINCHI NVNDCRGQCQ HGGTCKDLVN
GYQCVCPRGF GGRHCELERD ECASSPCHSG GLCEDLADGF HCHCPQGFSG PLCEVDVDLC
EPSPCRNGAR CYNLEGDYYC ACPDDFGGKN CSVPREPCPG GACRVIDGCG SDAGPGMPGT
AASGVCGPHG RCVSQPGGNF SCICDSGFTG TYCHENIDDC LGQPCRNGGT CIDEVDAFRC
FCPSGWEGEL CDTNPNDCLP DPCHSRGRCY DLVNDFYCAC DDGWKGKTCH SREFQCDAYT
CSNGGTCYDS GDTFRCACPP GWKGSTCAVA KNSSCLPNPC VNGGTCVGSG ASFSCICRDG
WEGRTCTHNT NDCNPLPCYN GGICVDGVNW FRCECAPGFA GPDCRINIDE CQSSPCAYGA
TCVDEINGYR CSCPPGRAGP RCQEVIGFGR SCWSRGTPFP HGSSWVEDCN SCRCLDGRRD
CSKVWCGWKP CLLAGQPEAL SAQCPLGQRC LEKAPGQCLR PPCEAWGECG AEEPPSTPCL
PRSGHLDNNC ARLTLHFNRD HVPQGTTVGA ICSGIRSLPA TRAVARDRLL VLLCDRASSG
ASAVEVAVSF SPARDLPDSS LIQGAAHAIV AAITQRGNSS LLLAVTEVKV ETVVTGGSST
GLLVPVLCGA FSVLWLACVV LCVWWTRKRR KERERSRLPR EESANNQWAP LNPIRNPIER
PGGHKDVLYQ CKNFTPPPRR ADEALPGPAG HAAVREDEED EDLGRGEEDS LEAEKFLSHK
FTKDPGRSPG RPAHWASGPK VDNRAVRSIN EARYAGKE*
mutated AA sequence MRAQGRGRLP RRLLLLLALW VQAARPMGYF ELQLSALRNV NGELLSGACC DGDGRTTRAG
GCGHDECDTY VRVCLKEYQA KVTPTGPCSY GHGATPVLGG NSFYLPPAGA AGDRARARAR
AGGDQDPGLV VIPFQFAWPR SFTLIVEAWD WDNDTTPNEE LLIERVSHAG MINPEDRWKS
LHFSGHVAHL ELQIRVRCDE NYYSATCNKF CRPRNDFFGH YTCDQYGNKA CMDGWMGKEC
KEAVCKQGCN LLHGGCTVPG ECRCSYGWQG RFCDECVPYP GCVHGSCVEP WQCNCETNWG
GLLCDKDLNY CGSHHPCTNG GTCINAEPDQ YRCTCPDGYS GRNCEKAEHA CTSNPCANGG
SCHEVPSGFE CHCPSGWSGP TCALDIDECA SNPCAAGGTC VDQVDGFECI CPEQWVGATC
QLDANECEGK PCLNAFSCKN LIGGYYCDCI PGWKGINCHI NVNDCRGQCQ HGGTCKDLVN
GYQCVCPRGF GGRHCELERD KCASSPCHSG GLCEDLADGF HCHCPQGFSG PLCEVDVDLC
EPSPCRNGAR CYNLEGDYYC ACPDDFGGKN CSVPREPCPG GACRVIDGCG SDAGPGMPGT
AASGVCGPHG RCVSQPGGNF SCICDSGFTG TYCHENIDDC LGQPCRNGGT CIDEVDAFRC
FCPSGWEGEL CDTNPNDCLP DPCHSRGRCY DLVNDFYCAC DDGWKGKTCH SREFQCDAYT
CSNGGTCYDS GDTFRCACPP GWKGSTCAVA KNSSCLPNPC VNGGTCVGSG ASFSCICRDG
WEGRTCTHNT NDCNPLPCYN GGICVDGVNW FRCECAPGFA GPDCRINIDE CQSSPCAYGA
TCVDEINGYR CSCPPGRAGP RCQEVIGFGR SCWSRGTPFP HGSSWVEDCN SCRCLDGRRD
CSKVWCGWKP CLLAGQPEAL SAQCPLGQRC LEKAPGQCLR PPCEAWGECG AEEPPSTPCL
PRSGHLDNNC ARLTLHFNRD HVPQGTTVGA ICSGIRSLPA TRAVARDRLL VLLCDRASSG
ASAVEVAVSF SPARDLPDSS LIQGAAHAIV AAITQRGNSS LLLAVTEVKV ETVVTGGSST
GLLVPVLCGA FSVLWLACVV LCVWWTRKRR KERERSRLPR EESANNQWAP LNPIRNPIER
PGGHKDVLYQ CKNFTPPPRR ADEALPGPAG HAAVREDEED EDLGRGEEDS LEAEKFLSHK
FTKDPGRSPG RPAHWASGPK VDNRAVRSIN EARYAGKE*
speed 0.90 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: 0.999989629735733 (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) chr14:105617042C>TN/A show variant in all transcripts   IGV
HGNC symbol JAG2
Ensembl transcript ID ENST00000347004
Genbank transcript ID NM_145159
UniProt peptide Q9Y219
alteration type single base exchange
alteration region CDS
DNA changes c.1387G>A
cDNA.1791G>A
g.18120G>A
AA changes E463K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 463
frameshift no
known variant Reference ID: rs1057744
databasehomozygous (T/T)heterozygousallele carriers
1000G78610331819
ExAC3558740710965
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7220.542
-0.0880.017
(flanking)-0.2960.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased18111wt: 0.28 / mu: 0.38wt: AGCTGGAACGAGACG
mu: AGCTGGAACGAGACA		 CTGG|aacg
Donor marginally increased18116wt: 0.9963 / mu: 0.9985 (marginal change - not scored)wt: GAACGAGACGAGTGT
mu: GAACGAGACAAGTGT		 ACGA|gacg
Donor increased18118wt: 0.76 / mu: 0.87wt: ACGAGACGAGTGTGC
mu: ACGAGACAAGTGTGC		 GAGA|cgag
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      463FGGRHCELERDECASSPCHSGGLC
mutated  all conserved    463FGGRHCELERDKCASSPCHSGGL
Ptroglodytes  all identical  ENSPTRG00000006784  233VPGECIDECASNPCAAGGT
Mmulatta  all identical  ENSMMUG00000001276  362DECASSPCHSGGL
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000002799  501FGGRHCELEYDKCASSPCRRGGI
Ggallus  all identical  ENSGALG00000011696  452FTGKNCEIETNECE
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000021389  494LHCEVSRNKCASGPCQNGGR
Dmelanogaster  all identical  FBgn0004197  650ETDIDECATSPCRNGGE
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
271080TOPO_DOMExtracellular (Potential).lost
461496DOMAINEGF-like 7; calcium-binding (Potential).lost
465465DISULFIDBy similarity.might get lost (downstream of altered splice site)
469469DISULFIDBy similarity.might get lost (downstream of altered splice site)
475475DISULFIDBy similarity.might get lost (downstream of altered splice site)
484484DISULFIDBy similarity.might get lost (downstream of altered splice site)
486486DISULFIDBy similarity.might get lost (downstream of altered splice site)
495495DISULFIDBy similarity.might get lost (downstream of altered splice site)
498534DOMAINEGF-like 8.might get lost (downstream of altered splice site)
502502DISULFIDBy similarity.might get lost (downstream of altered splice site)
507507DISULFIDBy similarity.might get lost (downstream of altered splice site)
513513DISULFIDBy similarity.might get lost (downstream of altered splice site)
522522DISULFIDBy similarity.might get lost (downstream of altered splice site)
524524DISULFIDBy similarity.might get lost (downstream of altered splice site)
533533DISULFIDBy similarity.might get lost (downstream of altered splice site)
536572DOMAINEGF-like 9.might get lost (downstream of altered splice site)
540540DISULFIDBy similarity.might get lost (downstream of altered splice site)
545545DISULFIDBy similarity.might get lost (downstream of altered splice site)
551551DISULFIDBy similarity.might get lost (downstream of altered splice site)
560560DISULFIDBy similarity.might get lost (downstream of altered splice site)
562562DISULFIDBy similarity.might get lost (downstream of altered splice site)
570570CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
571571DISULFIDBy similarity.might get lost (downstream of altered splice site)
574634DOMAINEGF-like 10; atypical.might get lost (downstream of altered splice site)
589589DISULFIDPotential.might get lost (downstream of altered splice site)
606606DISULFIDPotential.might get lost (downstream of altered splice site)
612612DISULFIDPotential.might get lost (downstream of altered splice site)
619619CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
622622DISULFIDPotential.might get lost (downstream of altered splice site)
624624DISULFIDBy similarity.might get lost (downstream of altered splice site)
633633DISULFIDBy similarity.might get lost (downstream of altered splice site)
636672DOMAINEGF-like 11; calcium-binding (Potential).might get lost (downstream of altered splice site)
640640DISULFIDBy similarity.might get lost (downstream of altered splice site)
645645DISULFIDBy similarity.might get lost (downstream of altered splice site)
651651DISULFIDBy similarity.might get lost (downstream of altered splice site)
660660DISULFIDBy similarity.might get lost (downstream of altered splice site)
662662DISULFIDBy similarity.might get lost (downstream of altered splice site)
671671DISULFIDBy similarity.might get lost (downstream of altered splice site)
674710DOMAINEGF-like 12; calcium-binding (Potential).might get lost (downstream of altered splice site)
678678DISULFIDBy similarity.might get lost (downstream of altered splice site)
683683DISULFIDBy similarity.might get lost (downstream of altered splice site)
689689DISULFIDBy similarity.might get lost (downstream of altered splice site)
698698DISULFIDBy similarity.might get lost (downstream of altered splice site)
700700DISULFIDBy similarity.might get lost (downstream of altered splice site)
709709DISULFIDBy similarity.might get lost (downstream of altered splice site)
712748DOMAINEGF-like 13.might get lost (downstream of altered splice site)
716716DISULFIDBy similarity.might get lost (downstream of altered splice site)
721721DISULFIDBy similarity.might get lost (downstream of altered splice site)
727727DISULFIDBy similarity.might get lost (downstream of altered splice site)
736736DISULFIDBy similarity.might get lost (downstream of altered splice site)
738738DISULFIDBy similarity.might get lost (downstream of altered splice site)
747747DISULFIDBy similarity.might get lost (downstream of altered splice site)
751787DOMAINEGF-like 14.might get lost (downstream of altered splice site)
752752CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
755755DISULFIDBy similarity.might get lost (downstream of altered splice site)
760760DISULFIDBy similarity.might get lost (downstream of altered splice site)
766766DISULFIDBy similarity.might get lost (downstream of altered splice site)
775775DISULFIDBy similarity.might get lost (downstream of altered splice site)
777777DISULFIDBy similarity.might get lost (downstream of altered splice site)
786786DISULFIDBy similarity.might get lost (downstream of altered splice site)
789825DOMAINEGF-like 15; calcium-binding (Potential).might get lost (downstream of altered splice site)
793793DISULFIDBy similarity.might get lost (downstream of altered splice site)
798798DISULFIDBy similarity.might get lost (downstream of altered splice site)
804804DISULFIDBy similarity.might get lost (downstream of altered splice site)
813813DISULFIDBy similarity.might get lost (downstream of altered splice site)
815815DISULFIDBy similarity.might get lost (downstream of altered splice site)
824824DISULFIDBy similarity.might get lost (downstream of altered splice site)
827863DOMAINEGF-like 16; calcium-binding (Potential).might get lost (downstream of altered splice site)
831831DISULFIDBy similarity.might get lost (downstream of altered splice site)
836836DISULFIDBy similarity.might get lost (downstream of altered splice site)
842842DISULFIDBy similarity.might get lost (downstream of altered splice site)
851851DISULFIDBy similarity.might get lost (downstream of altered splice site)
853853DISULFIDBy similarity.might get lost (downstream of altered splice site)
862862DISULFIDBy similarity.might get lost (downstream of altered splice site)
870944DOMAINVWFC.might get lost (downstream of altered splice site)
10581058CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
10811101TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
11021238TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
12351235CONFLICTA -> V (in Ref. 2; AAB61285).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3603 / 3603
position (AA) of stopcodon in wt / mu AA sequence 1201 / 1201
position of stopcodon in wt / mu cDNA 4007 / 4007
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 405 / 405
chromosome 14
strand -1
last intron/exon boundary 3532
theoretical NMD boundary in CDS 3077
length of CDS 3603
coding sequence (CDS) position 1387
cDNA position
(for ins/del: last normal base / first normal base)		 1791
gDNA position
(for ins/del: last normal base / first normal base)		 18120
chromosomal position
(for ins/del: last normal base / first normal base)		 105617042
original gDNA sequence snippet ATTGCGAGCTGGAACGAGACGAGTGTGCCAGCAGCCCCTGC
altered gDNA sequence snippet ATTGCGAGCTGGAACGAGACAAGTGTGCCAGCAGCCCCTGC
original cDNA sequence snippet ATTGCGAGCTGGAACGAGACGAGTGTGCCAGCAGCCCCTGC
altered cDNA sequence snippet ATTGCGAGCTGGAACGAGACAAGTGTGCCAGCAGCCCCTGC
wildtype AA sequence MRAQGRGRLP RRLLLLLALW VQAARPMGYF ELQLSALRNV NGELLSGACC DGDGRTTRAG
GCGHDECDTY VRVCLKEYQA KVTPTGPCSY GHGATPVLGG NSFYLPPAGA AGDRARARAR
AGGDQDPGLV VIPFQFAWPR SFTLIVEAWD WDNDTTPNEE LLIERVSHAG MINPEDRWKS
LHFSGHVAHL ELQIRVRCDE NYYSATCNKF CRPRNDFFGH YTCDQYGNKA CMDGWMGKEC
KEAVCKQGCN LLHGGCTVPG ECRCSYGWQG RFCDECVPYP GCVHGSCVEP WQCNCETNWG
GLLCDKDLNY CGSHHPCTNG GTCINAEPDQ YRCTCPDGYS GRNCEKAEHA CTSNPCANGG
SCHEVPSGFE CHCPSGWSGP TCALDIDECA SNPCAAGGTC VDQVDGFECI CPEQWVGATC
QLDVNDCRGQ CQHGGTCKDL VNGYQCVCPR GFGGRHCELE RDECASSPCH SGGLCEDLAD
GFHCHCPQGF SGPLCEVDVD LCEPSPCRNG ARCYNLEGDY YCACPDDFGG KNCSVPREPC
PGGACRVIDG CGSDAGPGMP GTAASGVCGP HGRCVSQPGG NFSCICDSGF TGTYCHENID
DCLGQPCRNG GTCIDEVDAF RCFCPSGWEG ELCDTNPNDC LPDPCHSRGR CYDLVNDFYC
ACDDGWKGKT CHSREFQCDA YTCSNGGTCY DSGDTFRCAC PPGWKGSTCA VAKNSSCLPN
PCVNGGTCVG SGASFSCICR DGWEGRTCTH NTNDCNPLPC YNGGICVDGV NWFRCECAPG
FAGPDCRINI DECQSSPCAY GATCVDEING YRCSCPPGRA GPRCQEVIGF GRSCWSRGTP
FPHGSSWVED CNSCRCLDGR RDCSKVWCGW KPCLLAGQPE ALSAQCPLGQ RCLEKAPGQC
LRPPCEAWGE CGAEEPPSTP CLPRSGHLDN NCARLTLHFN RDHVPQGTTV GAICSGIRSL
PATRAVARDR LLVLLCDRAS SGASAVEVAV SFSPARDLPD SSLIQGAAHA IVAAITQRGN
SSLLLAVTEV KVETVVTGGS STGLLVPVLC GAFSVLWLAC VVLCVWWTRK RRKERERSRL
PREESANNQW APLNPIRNPI ERPGGHKDVL YQCKNFTPPP RRADEALPGP AGHAAVREDE
EDEDLGRGEE DSLEAEKFLS HKFTKDPGRS PGRPAHWASG PKVDNRAVRS INEARYAGKE
*
mutated AA sequence MRAQGRGRLP RRLLLLLALW VQAARPMGYF ELQLSALRNV NGELLSGACC DGDGRTTRAG
GCGHDECDTY VRVCLKEYQA KVTPTGPCSY GHGATPVLGG NSFYLPPAGA AGDRARARAR
AGGDQDPGLV VIPFQFAWPR SFTLIVEAWD WDNDTTPNEE LLIERVSHAG MINPEDRWKS
LHFSGHVAHL ELQIRVRCDE NYYSATCNKF CRPRNDFFGH YTCDQYGNKA CMDGWMGKEC
KEAVCKQGCN LLHGGCTVPG ECRCSYGWQG RFCDECVPYP GCVHGSCVEP WQCNCETNWG
GLLCDKDLNY CGSHHPCTNG GTCINAEPDQ YRCTCPDGYS GRNCEKAEHA CTSNPCANGG
SCHEVPSGFE CHCPSGWSGP TCALDIDECA SNPCAAGGTC VDQVDGFECI CPEQWVGATC
QLDVNDCRGQ CQHGGTCKDL VNGYQCVCPR GFGGRHCELE RDKCASSPCH SGGLCEDLAD
GFHCHCPQGF SGPLCEVDVD LCEPSPCRNG ARCYNLEGDY YCACPDDFGG KNCSVPREPC
PGGACRVIDG CGSDAGPGMP GTAASGVCGP HGRCVSQPGG NFSCICDSGF TGTYCHENID
DCLGQPCRNG GTCIDEVDAF RCFCPSGWEG ELCDTNPNDC LPDPCHSRGR CYDLVNDFYC
ACDDGWKGKT CHSREFQCDA YTCSNGGTCY DSGDTFRCAC PPGWKGSTCA VAKNSSCLPN
PCVNGGTCVG SGASFSCICR DGWEGRTCTH NTNDCNPLPC YNGGICVDGV NWFRCECAPG
FAGPDCRINI DECQSSPCAY GATCVDEING YRCSCPPGRA GPRCQEVIGF GRSCWSRGTP
FPHGSSWVED CNSCRCLDGR RDCSKVWCGW KPCLLAGQPE ALSAQCPLGQ RCLEKAPGQC
LRPPCEAWGE CGAEEPPSTP CLPRSGHLDN NCARLTLHFN RDHVPQGTTV GAICSGIRSL
PATRAVARDR LLVLLCDRAS SGASAVEVAV SFSPARDLPD SSLIQGAAHA IVAAITQRGN
SSLLLAVTEV KVETVVTGGS STGLLVPVLC GAFSVLWLAC VVLCVWWTRK RRKERERSRL
PREESANNQW APLNPIRNPI ERPGGHKDVL YQCKNFTPPP RRADEALPGP AGHAAVREDE
EDEDLGRGEE DSLEAEKFLS HKFTKDPGRS PGRPAHWASG PKVDNRAVRS INEARYAGKE
*
speed 0.71 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