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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000376222
Querying Taster for transcript #2: ENST00000364810
Querying Taster for transcript #3: ENST00000399172
Querying Taster for transcript #4: ENST00000449934
MT speed 4.43 s - this script 5.487573 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
MICApolymorphism_automatic2.79776202205539e-14simple_aaeaffectedI193Tsingle base exchangers1140700show file
MICApolymorphism_automatic2.79776202205539e-14simple_aaeaffectedI98Tsingle base exchangers1140700show file
MICApolymorphism_automatic3.49720252756924e-14simple_aaeaffectedI236Tsingle base exchangers1140700show file
MICApolymorphism_automatic3.49720252756924e-14simple_aaeaffectedI236Tsingle base exchangers1140700show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999972 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1314936)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:31379817T>CN/A show variant in all transcripts   IGV
HGNC symbol MICA
Ensembl transcript ID ENST00000399172
Genbank transcript ID N/A
UniProt peptide Q29983
alteration type single base exchange
alteration region CDS
DNA changes c.578T>C
cDNA.672T>C
g.12257T>C
AA changes I193T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 193
frameshift no
known variant Reference ID: rs1140700
databasehomozygous (C/C)heterozygousallele carriers
1000G91010972007
ExAC14124451918643

known disease mutation at this position, please check HGMD for details (HGMD ID CM1314936)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5580
-0.9310
(flanking)-1.1810
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased12249wt: 0.44 / mu: 0.49wt: GCTTCCAGCTTCTATCCCCGGAATATCATACTGACCTGGCG
mu: GCTTCCAGCTTCTATCCCCGGAATATCACACTGACCTGGCG		 ccgg|AATA
Acc marginally increased12248wt: 0.8416 / mu: 0.8431 (marginal change - not scored)wt: GGCTTCCAGCTTCTATCCCCGGAATATCATACTGACCTGGC
mu: GGCTTCCAGCTTCTATCCCCGGAATATCACACTGACCTGGC		 cccg|GAAT
distance from splice site 94
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      193CRASSFYPRNIILTWRQDGVSLSH
mutated  not conserved    193CRASSFYPRNITLTWRQDGVSLS
Ptroglodytes  not conserved  ENSPTRG00000017957  236CWASSFYPRNITLTWR
Mmulatta  not conserved  ENSMMUG00000006609  236CRASGFYPGNITLTWRQD
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000030689  228CRVYGFYPRDVEVKWIK
protein features
start (aa)end (aa)featuredetails 
24307TOPO_DOMExtracellular (Potential).lost
177196HELIXlost
207296DOMAINIg-like C1-type.might get lost (downstream of altered splice site)
208213STRANDmight get lost (downstream of altered splice site)
210210CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
217233STRANDmight get lost (downstream of altered splice site)
220220CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
225225DISULFIDmight get lost (downstream of altered splice site)
236241STRANDmight get lost (downstream of altered splice site)
248250TURNmight get lost (downstream of altered splice site)
251253STRANDmight get lost (downstream of altered splice site)
260262STRANDmight get lost (downstream of altered splice site)
261261CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
264273STRANDmight get lost (downstream of altered splice site)
277279HELIXmight get lost (downstream of altered splice site)
280286STRANDmight get lost (downstream of altered splice site)
282282DISULFIDmight get lost (downstream of altered splice site)
289294STRANDmight get lost (downstream of altered splice site)
308328TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
329383TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 870 / 870
position (AA) of stopcodon in wt / mu AA sequence 290 / 290
position of stopcodon in wt / mu cDNA 964 / 964
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 95 / 95
chromosome 6
strand 1
last intron/exon boundary 994
theoretical NMD boundary in CDS 849
length of CDS 870
coding sequence (CDS) position 578
cDNA position
(for ins/del: last normal base / first normal base)		 672
gDNA position
(for ins/del: last normal base / first normal base)		 12257
chromosomal position
(for ins/del: last normal base / first normal base)		 31379817
original gDNA sequence snippet CTTCTATCCCCGGAATATCATACTGACCTGGCGTCAGGATG
altered gDNA sequence snippet CTTCTATCCCCGGAATATCACACTGACCTGGCGTCAGGATG
original cDNA sequence snippet CTTCTATCCCCGGAATATCATACTGACCTGGCGTCAGGATG
altered cDNA sequence snippet CTTCTATCCCCGGAATATCACACTGACCTGGCGTCAGGATG
wildtype AA sequence MGLGPVFLLL AGIFPFAPPG AAAEPHSLRY NLTVLSWDGS VQSGFLAEVH LDGQPFLRYD
RQKCRAKPQG QWAEDVLGNK TWDRETRDLT GNGKDLRMTL AHIKDQKEVP QSSRAQTLAM
NVRNFLKEDA MKTKTHYHAM HADCLQELRR YLESGVVLRR TVPPMVNVTR SEASEGNITV
TCRASSFYPR NIILTWRQDG VSLSHDTQQW GDVLPDGNGT YQTWVATRIC RGEEQRFTCY
MEHSGNHSTH PVPSGKVLVL QSHWQTFHVS AVAAGCCYFC YYYFLCPLL*
mutated AA sequence MGLGPVFLLL AGIFPFAPPG AAAEPHSLRY NLTVLSWDGS VQSGFLAEVH LDGQPFLRYD
RQKCRAKPQG QWAEDVLGNK TWDRETRDLT GNGKDLRMTL AHIKDQKEVP QSSRAQTLAM
NVRNFLKEDA MKTKTHYHAM HADCLQELRR YLESGVVLRR TVPPMVNVTR SEASEGNITV
TCRASSFYPR NITLTWRQDG VSLSHDTQQW GDVLPDGNGT YQTWVATRIC RGEEQRFTCY
MEHSGNHSTH PVPSGKVLVL QSHWQTFHVS AVAAGCCYFC YYYFLCPLL*
speed 1.06 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: 0.999999999999972 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1314936)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:31379817T>CN/A show variant in all transcripts   IGV
HGNC symbol MICA
Ensembl transcript ID ENST00000376222
Genbank transcript ID N/A
UniProt peptide Q29983
alteration type single base exchange
alteration region CDS
DNA changes c.293T>C
cDNA.1445T>C
g.12257T>C
AA changes I98T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 98
frameshift no
known variant Reference ID: rs1140700
databasehomozygous (C/C)heterozygousallele carriers
1000G91010972007
ExAC14124451918643

known disease mutation at this position, please check HGMD for details (HGMD ID CM1314936)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5580
-0.9310
(flanking)-1.1810
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased12249wt: 0.44 / mu: 0.49wt: GCTTCCAGCTTCTATCCCCGGAATATCATACTGACCTGGCG
mu: GCTTCCAGCTTCTATCCCCGGAATATCACACTGACCTGGCG		 ccgg|AATA
Acc marginally increased12248wt: 0.8416 / mu: 0.8431 (marginal change - not scored)wt: GGCTTCCAGCTTCTATCCCCGGAATATCATACTGACCTGGC
mu: GGCTTCCAGCTTCTATCCCCGGAATATCACACTGACCTGGC		 cccg|GAAT
distance from splice site 94
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      98CRASSFYPRNIILTWRQDGVSLSH
mutated  not conserved    98CRASSFYPRNITLTWRQDGVSLS
Ptroglodytes  not conserved  ENSPTRG00000017957  236CWASSFYPRNITLTWRQDGISLS
Mmulatta  not conserved  ENSMMUG00000006609  236ASGFYPGNITLTWRQDGVSLS
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000030689  228CRVYGFYPRDVEVKWIK
protein features
start (aa)end (aa)featuredetails 
24307TOPO_DOMExtracellular (Potential).lost
82101HELIXlost
109121STRANDmight get lost (downstream of altered splice site)
119119DISULFIDmight get lost (downstream of altered splice site)
127135STRANDmight get lost (downstream of altered splice site)
138144STRANDmight get lost (downstream of altered splice site)
145148TURNmight get lost (downstream of altered splice site)
149151STRANDmight get lost (downstream of altered splice site)
156170HELIXmight get lost (downstream of altered splice site)
177196HELIXmight get lost (downstream of altered splice site)
187187DISULFIDmight get lost (downstream of altered splice site)
207296DOMAINIg-like C1-type.might get lost (downstream of altered splice site)
208213STRANDmight get lost (downstream of altered splice site)
210210CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
217233STRANDmight get lost (downstream of altered splice site)
220220CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
225225DISULFIDmight get lost (downstream of altered splice site)
236241STRANDmight get lost (downstream of altered splice site)
248250TURNmight get lost (downstream of altered splice site)
251253STRANDmight get lost (downstream of altered splice site)
260262STRANDmight get lost (downstream of altered splice site)
261261CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
264273STRANDmight get lost (downstream of altered splice site)
277279HELIXmight get lost (downstream of altered splice site)
280286STRANDmight get lost (downstream of altered splice site)
282282DISULFIDmight get lost (downstream of altered splice site)
289294STRANDmight get lost (downstream of altered splice site)
308328TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
329383TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 585 / 585
position (AA) of stopcodon in wt / mu AA sequence 195 / 195
position of stopcodon in wt / mu cDNA 1737 / 1737
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 1153 / 1153
chromosome 6
strand 1
last intron/exon boundary 1767
theoretical NMD boundary in CDS 564
length of CDS 585
coding sequence (CDS) position 293
cDNA position
(for ins/del: last normal base / first normal base)		 1445
gDNA position
(for ins/del: last normal base / first normal base)		 12257
chromosomal position
(for ins/del: last normal base / first normal base)		 31379817
original gDNA sequence snippet CTTCTATCCCCGGAATATCATACTGACCTGGCGTCAGGATG
altered gDNA sequence snippet CTTCTATCCCCGGAATATCACACTGACCTGGCGTCAGGATG
original cDNA sequence snippet CTTCTATCCCCGGAATATCATACTGACCTGGCGTCAGGATG
altered cDNA sequence snippet CTTCTATCCCCGGAATATCACACTGACCTGGCGTCAGGATG
wildtype AA sequence MGQRDQGLDR ERKGPQDDPG SYQGPERRNF LKEDAMKTKT HYHAMHADCL QELRRYLESG
VVLRRTVPPM VNVTRSEASE GNITVTCRAS SFYPRNIILT WRQDGVSLSH DTQQWGDVLP
DGNGTYQTWV ATRICRGEEQ RFTCYMEHSG NHSTHPVPSG KVLVLQSHWQ TFHVSAVAAG
CCYFCYYYFL CPLL*
mutated AA sequence MGQRDQGLDR ERKGPQDDPG SYQGPERRNF LKEDAMKTKT HYHAMHADCL QELRRYLESG
VVLRRTVPPM VNVTRSEASE GNITVTCRAS SFYPRNITLT WRQDGVSLSH DTQQWGDVLP
DGNGTYQTWV ATRICRGEEQ RFTCYMEHSG NHSTHPVPSG KVLVLQSHWQ TFHVSAVAAG
CCYFCYYYFL CPLL*
speed 1.10 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: 0.999999999999965 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1314936)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:31379817T>CN/A show variant in all transcripts   IGV
HGNC symbol MICA
Ensembl transcript ID ENST00000364810
Genbank transcript ID NM_001177519
UniProt peptide Q29983
alteration type single base exchange
alteration region CDS
DNA changes c.707T>C
cDNA.1110T>C
g.12257T>C
AA changes I236T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 236
frameshift no
known variant Reference ID: rs1140700
databasehomozygous (C/C)heterozygousallele carriers
1000G91010972007
ExAC14124451918643

known disease mutation at this position, please check HGMD for details (HGMD ID CM1314936)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5580
-0.9310
(flanking)-1.1810
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased12249wt: 0.44 / mu: 0.49wt: GCTTCCAGCTTCTATCCCCGGAATATCATACTGACCTGGCG
mu: GCTTCCAGCTTCTATCCCCGGAATATCACACTGACCTGGCG		 ccgg|AATA
Acc marginally increased12248wt: 0.8416 / mu: 0.8431 (marginal change - not scored)wt: GGCTTCCAGCTTCTATCCCCGGAATATCATACTGACCTGGC
mu: GGCTTCCAGCTTCTATCCCCGGAATATCACACTGACCTGGC		 cccg|GAAT
distance from splice site 94
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      236CRASSFYPRNIILTWRQDGVSLSH
mutated  not conserved    236CRASSFYPRNITLTWR
Ptroglodytes  not conserved  ENSPTRG00000017957  236CWASSFYPRNITLTWR
Mmulatta  not conserved  ENSMMUG00000006609  236CRASGFYPGNITLTWRQD
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000030689  229CRVYGFYPRDVEVKWIKNGRDEI
protein features
start (aa)end (aa)featuredetails 
24307TOPO_DOMExtracellular (Potential).lost
207296DOMAINIg-like C1-type.lost
217233STRANDmight get lost (downstream of altered splice site)
236241STRANDlost
248250TURNmight get lost (downstream of altered splice site)
251253STRANDmight get lost (downstream of altered splice site)
260262STRANDmight get lost (downstream of altered splice site)
261261CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
264273STRANDmight get lost (downstream of altered splice site)
277279HELIXmight get lost (downstream of altered splice site)
280286STRANDmight get lost (downstream of altered splice site)
282282DISULFIDmight get lost (downstream of altered splice site)
289294STRANDmight get lost (downstream of altered splice site)
308328TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
329383TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 999 / 999
position (AA) of stopcodon in wt / mu AA sequence 333 / 333
position of stopcodon in wt / mu cDNA 1402 / 1402
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 404 / 404
chromosome 6
strand 1
last intron/exon boundary 1432
theoretical NMD boundary in CDS 978
length of CDS 999
coding sequence (CDS) position 707
cDNA position
(for ins/del: last normal base / first normal base)		 1110
gDNA position
(for ins/del: last normal base / first normal base)		 12257
chromosomal position
(for ins/del: last normal base / first normal base)		 31379817
original gDNA sequence snippet CTTCTATCCCCGGAATATCATACTGACCTGGCGTCAGGATG
altered gDNA sequence snippet CTTCTATCCCCGGAATATCACACTGACCTGGCGTCAGGATG
original cDNA sequence snippet CTTCTATCCCCGGAATATCATACTGACCTGGCGTCAGGATG
altered cDNA sequence snippet CTTCTATCCCCGGAATATCACACTGACCTGGCGTCAGGATG
wildtype AA sequence MGLGPVFLLL AGIFPFAPPG AAAEPHSLRY NLTVLSWDGS VQSGFLAEVH LDGQPFLRYD
RQKCRAKPQG QWAEDVLGNK TWDRETRDLT GNGKDLRMTL AHIKDQKEGL HSLQEIRVCE
IHEDNSTRSS QHFYYDGELF LSQNLETEEW TVPQSSRAQT LAMNVRNFLK EDAMKTKTHY
HAMHADCLQE LRRYLESGVV LRRTVPPMVN VTRSEASEGN ITVTCRASSF YPRNIILTWR
QDGVSLSHDT QQWGDVLPDG NGTYQTWVAT RICRGEEQRF TCYMEHSGNH STHPVPSGKV
LVLQSHWQTF HVSAVAAGCC YFCYYYFLCP LL*
mutated AA sequence MGLGPVFLLL AGIFPFAPPG AAAEPHSLRY NLTVLSWDGS VQSGFLAEVH LDGQPFLRYD
RQKCRAKPQG QWAEDVLGNK TWDRETRDLT GNGKDLRMTL AHIKDQKEGL HSLQEIRVCE
IHEDNSTRSS QHFYYDGELF LSQNLETEEW TVPQSSRAQT LAMNVRNFLK EDAMKTKTHY
HAMHADCLQE LRRYLESGVV LRRTVPPMVN VTRSEASEGN ITVTCRASSF YPRNITLTWR
QDGVSLSHDT QQWGDVLPDG NGTYQTWVAT RICRGEEQRF TCYMEHSGNH STHPVPSGKV
LVLQSHWQTF HVSAVAAGCC YFCYYYFLCP LL*
speed 1.21 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: 0.999999999999965 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1314936)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:31379817T>CN/A show variant in all transcripts   IGV
HGNC symbol MICA
Ensembl transcript ID ENST00000449934
Genbank transcript ID NM_001177519
UniProt peptide Q29983
alteration type single base exchange
alteration region CDS
DNA changes c.707T>C
cDNA.746T>C
g.12257T>C
AA changes I236T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 236
frameshift no
known variant Reference ID: rs1140700
databasehomozygous (C/C)heterozygousallele carriers
1000G91010972007
ExAC14124451918643

known disease mutation at this position, please check HGMD for details (HGMD ID CM1314936)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5580
-0.9310
(flanking)-1.1810
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased12249wt: 0.44 / mu: 0.49wt: GCTTCCAGCTTCTATCCCCGGAATATCATACTGACCTGGCG
mu: GCTTCCAGCTTCTATCCCCGGAATATCACACTGACCTGGCG		 ccgg|AATA
Acc marginally increased12248wt: 0.8416 / mu: 0.8431 (marginal change - not scored)wt: GGCTTCCAGCTTCTATCCCCGGAATATCATACTGACCTGGC
mu: GGCTTCCAGCTTCTATCCCCGGAATATCACACTGACCTGGC		 cccg|GAAT
distance from splice site 94
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      236CRASSFYPRNIILTWRQDGVSLSH
mutated  not conserved    236CRASSFYPRNITLTWR
Ptroglodytes  not conserved  ENSPTRG00000017957  236CWASSFYPRNITLTWR
Mmulatta  not conserved  ENSMMUG00000006609  236CRASGFYPGNITLTWRQD
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000030689  229CRVYGFYPRDVEVKWIKNGRDEI
protein features
start (aa)end (aa)featuredetails 
24307TOPO_DOMExtracellular (Potential).lost
207296DOMAINIg-like C1-type.lost
217233STRANDmight get lost (downstream of altered splice site)
236241STRANDlost
248250TURNmight get lost (downstream of altered splice site)
251253STRANDmight get lost (downstream of altered splice site)
260262STRANDmight get lost (downstream of altered splice site)
261261CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
264273STRANDmight get lost (downstream of altered splice site)
277279HELIXmight get lost (downstream of altered splice site)
280286STRANDmight get lost (downstream of altered splice site)
282282DISULFIDmight get lost (downstream of altered splice site)
289294STRANDmight get lost (downstream of altered splice site)
308328TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
329383TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 999 / 999
position (AA) of stopcodon in wt / mu AA sequence 333 / 333
position of stopcodon in wt / mu cDNA 1038 / 1038
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 40 / 40
chromosome 6
strand 1
last intron/exon boundary 1068
theoretical NMD boundary in CDS 978
length of CDS 999
coding sequence (CDS) position 707
cDNA position
(for ins/del: last normal base / first normal base)		 746
gDNA position
(for ins/del: last normal base / first normal base)		 12257
chromosomal position
(for ins/del: last normal base / first normal base)		 31379817
original gDNA sequence snippet CTTCTATCCCCGGAATATCATACTGACCTGGCGTCAGGATG
altered gDNA sequence snippet CTTCTATCCCCGGAATATCACACTGACCTGGCGTCAGGATG
original cDNA sequence snippet CTTCTATCCCCGGAATATCATACTGACCTGGCGTCAGGATG
altered cDNA sequence snippet CTTCTATCCCCGGAATATCACACTGACCTGGCGTCAGGATG
wildtype AA sequence MGLGPVFLLL AGIFPFAPPG AAAEPHSLRY NLTVLSWDGS VQSGFLAEVH LDGQPFLRYD
RQKCRAKPQG QWAEDVLGNK TWDRETRDLT GNGKDLRMTL AHIKDQKEGL HSLQEIRVCE
IHEDNSTRSS QHFYYDGELF LSQNLETEEW TVPQSSRAQT LAMNVRNFLK EDAMKTKTHY
HAMHADCLQE LRRYLESGVV LRRTVPPMVN VTRSEASEGN ITVTCRASSF YPRNIILTWR
QDGVSLSHDT QQWGDVLPDG NGTYQTWVAT RICRGEEQRF TCYMEHSGNH STHPVPSGKV
LVLQSHWQTF HVSAVAAGCC YFCYYYFLCP LL*
mutated AA sequence MGLGPVFLLL AGIFPFAPPG AAAEPHSLRY NLTVLSWDGS VQSGFLAEVH LDGQPFLRYD
RQKCRAKPQG QWAEDVLGNK TWDRETRDLT GNGKDLRMTL AHIKDQKEGL HSLQEIRVCE
IHEDNSTRSS QHFYYDGELF LSQNLETEEW TVPQSSRAQT LAMNVRNFLK EDAMKTKTHY
HAMHADCLQE LRRYLESGVV LRRTVPPMVN VTRSEASEGN ITVTCRASSF YPRNITLTWR
QDGVSLSHDT QQWGDVLPDG NGTYQTWVAT RICRGEEQRF TCYMEHSGNH STHPVPSGKV
LVLQSHWQTF HVSAVAAGCC YFCYYYFLCP LL*
speed 1.06 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