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 10 transcript(s)...
Querying Taster for transcript #1: ENST00000527974
Querying Taster for transcript #2: ENST00000352231
Querying Taster for transcript #3: ENST00000526589
Querying Taster for transcript #4: ENST00000341872
Querying Taster for transcript #5: ENST00000366584
Querying Taster for transcript #6: ENST00000323938
Querying Taster for transcript #7: ENST00000526634
Querying Taster for transcript #8: ENST00000525042
Querying Taster for transcript #9: ENST00000450372
Querying Taster for transcript #10: ENST00000416919
MT speed 0 s - this script 7.174003 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
LGALS8polymorphism_automatic3.48372997116542e-10simple_aaeaffectedR167Ssingle base exchangers2243525show file
LGALS8polymorphism_automatic3.48372997116542e-10simple_aaeaffectedR167Ssingle base exchangers2243525show file
LGALS8polymorphism_automatic6.09338024482042e-10simple_aaeaffectedR184Ssingle base exchangers2243525show file
LGALS8polymorphism_automatic6.09338024482042e-10simple_aaeaffectedR184Ssingle base exchangers2243525show file
LGALS8polymorphism_automatic6.09338024482042e-10simple_aaeaffectedR157Ssingle base exchangers2243525show file
LGALS8polymorphism_automatic6.09338024482042e-10simple_aaeaffectedR184Ssingle base exchangers2243525show file
LGALS8polymorphism_automatic4.58282600757087e-09simple_aaeaffectedR226Ssingle base exchangers2243525show file
LGALS8polymorphism_automatic4.58282600757087e-09simple_aaeaffectedR226Ssingle base exchangers2243525show file
LGALS8polymorphism_automatic4.58282600757087e-09simple_aaeaffectedR226Ssingle base exchangers2243525show file
LGALS8polymorphism_automatic4.58282600757087e-09simple_aaeaffectedR226Ssingle base exchangers2243525show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999651627 (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) chr1:236706862G>CN/A show variant in all transcripts   IGV
HGNC symbol LGALS8
Ensembl transcript ID ENST00000525042
Genbank transcript ID N/A
UniProt peptide O00214
alteration type single base exchange
alteration region CDS
DNA changes c.501G>C
cDNA.501G>C
g.25563G>C
AA changes R167S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 167
frameshift no
known variant Reference ID: rs2243525
databasehomozygous (C/C)heterozygousallele carriers
1000G116910562225
ExAC31626-304851141
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1170.201
-1.3010.105
(flanking)1.3270.886
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Acceptor lost25560sequence motif lost- wt: tcag|AGGC
 mu: tcag.AGCC
Acc increased25572wt: 0.42 / mu: 0.70wt: TCTTTTCAGAGGCTGCCATTCGCTGCAAGGTTGAACACCCC
mu: TCTTTTCAGAGCCTGCCATTCGCTGCAAGGTTGAACACCCC		 attc|GCTG
Acc gained255650.35mu: TGTGGCTTCTTTTCAGAGCCTGCCATTCGCTGCAAGGTTGA gcct|GCCA
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      167TKIPPMNYVSKRLPFAARLNTPMG
mutated  not conserved    167TKIPPMNYVSKSLPFAARLNTPM
Ptroglodytes  all conserved  ENSPTRG00000002140  193SKIAPRTVYTKSKDSTVNHTLTCTKIPPMNCVSKSLPFAARLNTPM
Mmulatta  not conserved  ENSMMUG00000015132  188PQLPSNRGDISKIVPRTVYTKSKDSTVNHSLTCTKIPPMNYVSKSLPFAARLNTPM
Fcatus  not conserved  ENSFCAG00000003385  188SQFPSNRGDISKIVPRTVYTKSKGSTANHSLTCAKILPTNCLSKTLPFVARLNSSM
Mmusculus  not conserved  ENSMUSG00000057554  187ENIQKPGKLQLSLPFEARLNASM
Ggallus  not conserved  ENSGALG00000014371  184F-EGVPYVGKLVSAL
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000037066  166SESKKENQLQFHLPFRSKLAKGL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000009015  165TILGSQPTSFAVNSIEGNQGRSEKLLTFSVPYT
protein features
start (aa)end (aa)featuredetails 
171171CONFLICTS -> V (in Ref. 1; AAB51605).might get lost (downstream of altered splice site)
185193STRANDmight get lost (downstream of altered splice site)
187317DOMAINGalectin 2.might get lost (downstream of altered splice site)
199199CONFLICTR -> G (in Ref. 8; AAL77076).might get lost (downstream of altered splice site)
200207STRANDmight get lost (downstream of altered splice site)
204204CONFLICTK -> Q (in Ref. 1; AAB51605).might get lost (downstream of altered splice site)
213220STRANDmight get lost (downstream of altered splice site)
221224TURNmight get lost (downstream of altered splice site)
225225CONFLICTD -> H (in Ref. 8; AAL77076).might get lost (downstream of altered splice site)
225233STRANDmight get lost (downstream of altered splice site)
234237TURNmight get lost (downstream of altered splice site)
238244STRANDmight get lost (downstream of altered splice site)
246249STRANDmight get lost (downstream of altered splice site)
249255REGIONBeta-galactoside binding (By similarity).might get lost (downstream of altered splice site)
256258STRANDmight get lost (downstream of altered splice site)
259259CONFLICTF -> L (in Ref. 7; AAK16736).might get lost (downstream of altered splice site)
266273STRANDmight get lost (downstream of altered splice site)
275282STRANDmight get lost (downstream of altered splice site)
285291STRANDmight get lost (downstream of altered splice site)
297299HELIXmight get lost (downstream of altered splice site)
302315STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 903 / 903
position (AA) of stopcodon in wt / mu AA sequence 301 / 301
position of stopcodon in wt / mu cDNA 903 / 903
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 1 / 1
chromosome 1
strand 1
last intron/exon boundary 754
theoretical NMD boundary in CDS 703
length of CDS 903
coding sequence (CDS) position 501
cDNA position
(for ins/del: last normal base / first normal base)		 501
gDNA position
(for ins/del: last normal base / first normal base)		 25563
chromosomal position
(for ins/del: last normal base / first normal base)		 236706862
original gDNA sequence snippet ACTGTGGCTTCTTTTCAGAGGCTGCCATTCGCTGCAAGGTT
altered gDNA sequence snippet ACTGTGGCTTCTTTTCAGAGCCTGCCATTCGCTGCAAGGTT
original cDNA sequence snippet ATGAACTATGTGTCAAAGAGGCTGCCATTCGCTGCAAGGTT
altered cDNA sequence snippet ATGAACTATGTGTCAAAGAGCCTGCCATTCGCTGCAAGGTT
wildtype AA sequence MMLSLNNLQN IIYNPVIPFV GTIPDQLDPG TLIVIRGHVP SDADRFQVDL QNGSSMKPRA
DVAFHFNPRF KRAGCIVCNT LINEKWGREE ITYDTPFKRE KSFEIVIMVL KDKFQVPKSG
TPQLPSNRGG DISKIAPRTV YTKSKDSTVN HTLTCTKIPP MNYVSKRLPF AARLNTPMGP
GRTVVVKGEV NANAKSFNVD LLAGKSKDIA LHLNPRLNIK AFVRNSFLQE SWGEEERNIT
SFPFSPGMYF EMIIYCDVRE FKVAVNGVHS LEYKHRFKEL SSIDTLEING DIHLLEVRSW
*
mutated AA sequence MMLSLNNLQN IIYNPVIPFV GTIPDQLDPG TLIVIRGHVP SDADRFQVDL QNGSSMKPRA
DVAFHFNPRF KRAGCIVCNT LINEKWGREE ITYDTPFKRE KSFEIVIMVL KDKFQVPKSG
TPQLPSNRGG DISKIAPRTV YTKSKDSTVN HTLTCTKIPP MNYVSKSLPF AARLNTPMGP
GRTVVVKGEV NANAKSFNVD LLAGKSKDIA LHLNPRLNIK AFVRNSFLQE SWGEEERNIT
SFPFSPGMYF EMIIYCDVRE FKVAVNGVHS LEYKHRFKEL SSIDTLEING DIHLLEVRSW
*
speed 0.79 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: 0.999999999651627 (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) chr1:236706862G>CN/A show variant in all transcripts   IGV
HGNC symbol LGALS8
Ensembl transcript ID ENST00000416919
Genbank transcript ID N/A
UniProt peptide O00214
alteration type single base exchange
alteration region CDS
DNA changes c.501G>C
cDNA.646G>C
g.25563G>C
AA changes R167S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 167
frameshift no
known variant Reference ID: rs2243525
databasehomozygous (C/C)heterozygousallele carriers
1000G116910562225
ExAC31626-304851141
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1170.201
-1.3010.105
(flanking)1.3270.886
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Acceptor lost25560sequence motif lost- wt: tcag|AGGC
 mu: tcag.AGCC
Acc increased25572wt: 0.42 / mu: 0.70wt: TCTTTTCAGAGGCTGCCATTCGCTGCAAGGTTGAACACCCC
mu: TCTTTTCAGAGCCTGCCATTCGCTGCAAGGTTGAACACCCC		 attc|GCTG
Acc gained255650.35mu: TGTGGCTTCTTTTCAGAGCCTGCCATTCGCTGCAAGGTTGA gcct|GCCA
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      167TKIPPMNYVSKRLPFAARLNTPMG
mutated  not conserved    167TKIPPMNYVSKSLPFAARLNTPM
Ptroglodytes  all conserved  ENSPTRG00000002140  193SKIAPRTVYTKSKDSTVNHTLTCTKIPPMNCVSKSLPFAARLNTPM
Mmulatta  not conserved  ENSMMUG00000015132  188PQLPSNRGDISKIVPRTVYTKSKDSTVNHSLTCTKIPPMNYVSKSLPFAARLNTPM
Fcatus  not conserved  ENSFCAG00000003385  188SQFPSNRGDISKIVPRTVYTKSKGSTANHSLTCAKILPTNCLSKTLPFVARLNSSM
Mmusculus  not conserved  ENSMUSG00000057554  187ENIQKPGKLQLSLPFEARLNASM
Ggallus  not conserved  ENSGALG00000014371  184F-EGVPYVGKLVSAL
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000037066  166SESKKENQLQFHLPFRSKLAKGL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000009015  165TILGSQPTSFAVNSIEGNQGRSEKLLTFSVPYT
protein features
start (aa)end (aa)featuredetails 
171171CONFLICTS -> V (in Ref. 1; AAB51605).might get lost (downstream of altered splice site)
185193STRANDmight get lost (downstream of altered splice site)
187317DOMAINGalectin 2.might get lost (downstream of altered splice site)
199199CONFLICTR -> G (in Ref. 8; AAL77076).might get lost (downstream of altered splice site)
200207STRANDmight get lost (downstream of altered splice site)
204204CONFLICTK -> Q (in Ref. 1; AAB51605).might get lost (downstream of altered splice site)
213220STRANDmight get lost (downstream of altered splice site)
221224TURNmight get lost (downstream of altered splice site)
225225CONFLICTD -> H (in Ref. 8; AAL77076).might get lost (downstream of altered splice site)
225233STRANDmight get lost (downstream of altered splice site)
234237TURNmight get lost (downstream of altered splice site)
238244STRANDmight get lost (downstream of altered splice site)
246249STRANDmight get lost (downstream of altered splice site)
249255REGIONBeta-galactoside binding (By similarity).might get lost (downstream of altered splice site)
256258STRANDmight get lost (downstream of altered splice site)
259259CONFLICTF -> L (in Ref. 7; AAK16736).might get lost (downstream of altered splice site)
266273STRANDmight get lost (downstream of altered splice site)
275282STRANDmight get lost (downstream of altered splice site)
285291STRANDmight get lost (downstream of altered splice site)
297299HELIXmight get lost (downstream of altered splice site)
302315STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 903 / 903
position (AA) of stopcodon in wt / mu AA sequence 301 / 301
position of stopcodon in wt / mu cDNA 1048 / 1048
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 146 / 146
chromosome 1
strand 1
last intron/exon boundary 899
theoretical NMD boundary in CDS 703
length of CDS 903
coding sequence (CDS) position 501
cDNA position
(for ins/del: last normal base / first normal base)		 646
gDNA position
(for ins/del: last normal base / first normal base)		 25563
chromosomal position
(for ins/del: last normal base / first normal base)		 236706862
original gDNA sequence snippet ACTGTGGCTTCTTTTCAGAGGCTGCCATTCGCTGCAAGGTT
altered gDNA sequence snippet ACTGTGGCTTCTTTTCAGAGCCTGCCATTCGCTGCAAGGTT
original cDNA sequence snippet ATGAACTATGTGTCAAAGAGGCTGCCATTCGCTGCAAGGTT
altered cDNA sequence snippet ATGAACTATGTGTCAAAGAGCCTGCCATTCGCTGCAAGGTT
wildtype AA sequence MMLSLNNLQN IIYNPVIPFV GTIPDQLDPG TLIVIRGHVP SDADRFQVDL QNGSSMKPRA
DVAFHFNPRF KRAGCIVCNT LINEKWGREE ITYDTPFKRE KSFEIVIMVL KDKFQVPKSG
TPQLPSNRGG DISKIAPRTV YTKSKDSTVN HTLTCTKIPP MNYVSKRLPF AARLNTPMGP
GRTVVVKGEV NANAKSFNVD LLAGKSKDIA LHLNPRLNIK AFVRNSFLQE SWGEEERNIT
SFPFSPGMYF EMIIYCDVRE FKVAVNGVHS LEYKHRFKEL SSIDTLEING DIHLLEVRSW
*
mutated AA sequence MMLSLNNLQN IIYNPVIPFV GTIPDQLDPG TLIVIRGHVP SDADRFQVDL QNGSSMKPRA
DVAFHFNPRF KRAGCIVCNT LINEKWGREE ITYDTPFKRE KSFEIVIMVL KDKFQVPKSG
TPQLPSNRGG DISKIAPRTV YTKSKDSTVN HTLTCTKIPP MNYVSKSLPF AARLNTPMGP
GRTVVVKGEV NANAKSFNVD LLAGKSKDIA LHLNPRLNIK AFVRNSFLQE SWGEEERNIT
SFPFSPGMYF EMIIYCDVRE FKVAVNGVHS LEYKHRFKEL SSIDTLEING DIHLLEVRSW
*
speed 0.73 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: 0.999999999390662 (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) chr1:236706862G>CN/A show variant in all transcripts   IGV
HGNC symbol LGALS8
Ensembl transcript ID ENST00000341872
Genbank transcript ID N/A
UniProt peptide O00214
alteration type single base exchange
alteration region CDS
DNA changes c.552G>C
cDNA.933G>C
g.25563G>C
AA changes R184S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 184
frameshift no
known variant Reference ID: rs2243525
databasehomozygous (C/C)heterozygousallele carriers
1000G116910562225
ExAC31626-304851141
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1170.201
-1.3010.105
(flanking)1.3270.886
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Acceptor lost25560sequence motif lost- wt: tcag|AGGC
 mu: tcag.AGCC
Acc increased25572wt: 0.42 / mu: 0.70wt: TCTTTTCAGAGGCTGCCATTCGCTGCAAGGTTGAACACCCC
mu: TCTTTTCAGAGCCTGCCATTCGCTGCAAGGTTGAACACCCC		 attc|GCTG
Acc gained255650.35mu: TGTGGCTTCTTTTCAGAGCCTGCCATTCGCTGCAAGGTTGA gcct|GCCA
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      184ENVPKSGTPQLRLPFAARLNTPMG
mutated  not conserved    184PQLSLPFAARLNTPM
Ptroglodytes  not conserved  ENSPTRG00000002140  184PQLPSNREGDISKIAPRTVYTKSKDSTVNHTLTCTKIPPMNCVSKSLPFAARLNTPM
Mmulatta  not conserved  ENSMMUG00000015132  184PQLPSNRGDISKIVPRTVYTKSKDSTVNHSLTCTKIPPMNYVSKSLPFAARLNTPM
Fcatus  not conserved  ENSFCAG00000003385  184SQFPSNRGDISKIVPRTVYTKSKGSTANHSLTCAKILPTNCLSKTLPFVARLNSSM
Mmusculus  not conserved  ENSMUSG00000057554  192ENIQKPGKLQLSLPFEARLNASM
Ggallus  not conserved  ENSGALG00000014371  183MYFEGVPYVGKLVSAL
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000037066  165FHLPFRSKLAKGL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000009015  182NQGRSEKLLTFSVPYT
protein features
start (aa)end (aa)featuredetails 
185193STRANDmight get lost (downstream of altered splice site)
187317DOMAINGalectin 2.might get lost (downstream of altered splice site)
199199CONFLICTR -> G (in Ref. 8; AAL77076).might get lost (downstream of altered splice site)
200207STRANDmight get lost (downstream of altered splice site)
204204CONFLICTK -> Q (in Ref. 1; AAB51605).might get lost (downstream of altered splice site)
213220STRANDmight get lost (downstream of altered splice site)
221224TURNmight get lost (downstream of altered splice site)
225225CONFLICTD -> H (in Ref. 8; AAL77076).might get lost (downstream of altered splice site)
225233STRANDmight get lost (downstream of altered splice site)
234237TURNmight get lost (downstream of altered splice site)
238244STRANDmight get lost (downstream of altered splice site)
246249STRANDmight get lost (downstream of altered splice site)
249255REGIONBeta-galactoside binding (By similarity).might get lost (downstream of altered splice site)
256258STRANDmight get lost (downstream of altered splice site)
259259CONFLICTF -> L (in Ref. 7; AAK16736).might get lost (downstream of altered splice site)
266273STRANDmight get lost (downstream of altered splice site)
275282STRANDmight get lost (downstream of altered splice site)
285291STRANDmight get lost (downstream of altered splice site)
297299HELIXmight get lost (downstream of altered splice site)
302315STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 954 / 954
position (AA) of stopcodon in wt / mu AA sequence 318 / 318
position of stopcodon in wt / mu cDNA 1335 / 1335
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 382 / 382
chromosome 1
strand 1
last intron/exon boundary 1186
theoretical NMD boundary in CDS 754
length of CDS 954
coding sequence (CDS) position 552
cDNA position
(for ins/del: last normal base / first normal base)		 933
gDNA position
(for ins/del: last normal base / first normal base)		 25563
chromosomal position
(for ins/del: last normal base / first normal base)		 236706862
original gDNA sequence snippet ACTGTGGCTTCTTTTCAGAGGCTGCCATTCGCTGCAAGGTT
altered gDNA sequence snippet ACTGTGGCTTCTTTTCAGAGCCTGCCATTCGCTGCAAGGTT
original cDNA sequence snippet TCTGGCACGCCCCAGCTTAGGCTGCCATTCGCTGCAAGGTT
altered cDNA sequence snippet TCTGGCACGCCCCAGCTTAGCCTGCCATTCGCTGCAAGGTT
wildtype AA sequence MMLSLNNLQN IIYNPVIPFV GTIPDQLDPG TLIVIRGHVP SDADRFQVDL QNGSSMKPRA
DVAFHFNPRF KRAGCIVCNT LINEKWGREE ITYDTPFKRE KSFEIVIMVL KDKFQVAVNG
KHTLLYGHRI GPEKIDTLGI YGKVNIHSIG FSFSSDLQST QASSLELTEI SRENVPKSGT
PQLRLPFAAR LNTPMGPGRT VVVKGEVNAN AKSFNVDLLA GKSKDIALHL NPRLNIKAFV
RNSFLQESWG EEERNITSFP FSPGMYFEMI IYCDVREFKV AVNGVHSLEY KHRFKELSSI
DTLEINGDIH LLEVRSW*
mutated AA sequence MMLSLNNLQN IIYNPVIPFV GTIPDQLDPG TLIVIRGHVP SDADRFQVDL QNGSSMKPRA
DVAFHFNPRF KRAGCIVCNT LINEKWGREE ITYDTPFKRE KSFEIVIMVL KDKFQVAVNG
KHTLLYGHRI GPEKIDTLGI YGKVNIHSIG FSFSSDLQST QASSLELTEI SRENVPKSGT
PQLSLPFAAR LNTPMGPGRT VVVKGEVNAN AKSFNVDLLA GKSKDIALHL NPRLNIKAFV
RNSFLQESWG EEERNITSFP FSPGMYFEMI IYCDVREFKV AVNGVHSLEY KHRFKELSSI
DTLEINGDIH LLEVRSW*
speed 0.89 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: 0.999999999390662 (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) chr1:236706862G>CN/A show variant in all transcripts   IGV
HGNC symbol LGALS8
Ensembl transcript ID ENST00000366584
Genbank transcript ID N/A
UniProt peptide O00214
alteration type single base exchange
alteration region CDS
DNA changes c.552G>C
cDNA.1118G>C
g.25563G>C
AA changes R184S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 184
frameshift no
known variant Reference ID: rs2243525
databasehomozygous (C/C)heterozygousallele carriers
1000G116910562225
ExAC31626-304851141
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1170.201
-1.3010.105
(flanking)1.3270.886
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Acceptor lost25560sequence motif lost- wt: tcag|AGGC
 mu: tcag.AGCC
Acc increased25572wt: 0.42 / mu: 0.70wt: TCTTTTCAGAGGCTGCCATTCGCTGCAAGGTTGAACACCCC
mu: TCTTTTCAGAGCCTGCCATTCGCTGCAAGGTTGAACACCCC		 attc|GCTG
Acc gained255650.35mu: TGTGGCTTCTTTTCAGAGCCTGCCATTCGCTGCAAGGTTGA gcct|GCCA
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      184ENVPKSGTPQLRLPFAARLNTPMG
mutated  not conserved    184PQLSLPFAARLNTPM
Ptroglodytes  not conserved  ENSPTRG00000002140  184PQLPSNREGDISKIAPRTVYTKSKDSTVNHTLTCTKIPPMNCVSKSLPFAARLNTPM
Mmulatta  not conserved  ENSMMUG00000015132  184PQLPSNRGDISKIVPRTVYTKSKDSTVNHSLTCTKIPPMNYVSKSLPFAARLNTPM
Fcatus  not conserved  ENSFCAG00000003385  184SQFPSNRGDISKIVPRTVYTKSKGSTANHSLTCAKILPTNCLSKTLPFVARLNSSM
Mmusculus  not conserved  ENSMUSG00000057554  192ENIQKPGKLQLSLPFEARLNASM
Ggallus  not conserved  ENSGALG00000014371  183MYFEGVPYVGKLVSAL
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000037066  165FHLPFRSKLAKGL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000009015  182NQGRSEKLLTFSVPYT
protein features
start (aa)end (aa)featuredetails 
185193STRANDmight get lost (downstream of altered splice site)
187317DOMAINGalectin 2.might get lost (downstream of altered splice site)
199199CONFLICTR -> G (in Ref. 8; AAL77076).might get lost (downstream of altered splice site)
200207STRANDmight get lost (downstream of altered splice site)
204204CONFLICTK -> Q (in Ref. 1; AAB51605).might get lost (downstream of altered splice site)
213220STRANDmight get lost (downstream of altered splice site)
221224TURNmight get lost (downstream of altered splice site)
225225CONFLICTD -> H (in Ref. 8; AAL77076).might get lost (downstream of altered splice site)
225233STRANDmight get lost (downstream of altered splice site)
234237TURNmight get lost (downstream of altered splice site)
238244STRANDmight get lost (downstream of altered splice site)
246249STRANDmight get lost (downstream of altered splice site)
249255REGIONBeta-galactoside binding (By similarity).might get lost (downstream of altered splice site)
256258STRANDmight get lost (downstream of altered splice site)
259259CONFLICTF -> L (in Ref. 7; AAK16736).might get lost (downstream of altered splice site)
266273STRANDmight get lost (downstream of altered splice site)
275282STRANDmight get lost (downstream of altered splice site)
285291STRANDmight get lost (downstream of altered splice site)
297299HELIXmight get lost (downstream of altered splice site)
302315STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 954 / 954
position (AA) of stopcodon in wt / mu AA sequence 318 / 318
position of stopcodon in wt / mu cDNA 1520 / 1520
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 567 / 567
chromosome 1
strand 1
last intron/exon boundary 1371
theoretical NMD boundary in CDS 754
length of CDS 954
coding sequence (CDS) position 552
cDNA position
(for ins/del: last normal base / first normal base)		 1118
gDNA position
(for ins/del: last normal base / first normal base)		 25563
chromosomal position
(for ins/del: last normal base / first normal base)		 236706862
original gDNA sequence snippet ACTGTGGCTTCTTTTCAGAGGCTGCCATTCGCTGCAAGGTT
altered gDNA sequence snippet ACTGTGGCTTCTTTTCAGAGCCTGCCATTCGCTGCAAGGTT
original cDNA sequence snippet TCTGGCACGCCCCAGCTTAGGCTGCCATTCGCTGCAAGGTT
altered cDNA sequence snippet TCTGGCACGCCCCAGCTTAGCCTGCCATTCGCTGCAAGGTT
wildtype AA sequence MMLSLNNLQN IIYNPVIPFV GTIPDQLDPG TLIVIRGHVP SDADRFQVDL QNGSSMKPRA
DVAFHFNPRF KRAGCIVCNT LINEKWGREE ITYDTPFKRE KSFEIVIMVL KDKFQVAVNG
KHTLLYGHRI GPEKIDTLGI YGKVNIHSIG FSFSSDLQST QASSLELTEI SRENVPKSGT
PQLRLPFAAR LNTPMGPGRT VVVKGEVNAN AKSFNVDLLA GKSKDIALHL NPRLNIKAFV
RNSFLQESWG EEERNITSFP FSPGMYFEMI IYCDVREFKV AVNGVHSLEY KHRFKELSSI
DTLEINGDIH LLEVRSW*
mutated AA sequence MMLSLNNLQN IIYNPVIPFV GTIPDQLDPG TLIVIRGHVP SDADRFQVDL QNGSSMKPRA
DVAFHFNPRF KRAGCIVCNT LINEKWGREE ITYDTPFKRE KSFEIVIMVL KDKFQVAVNG
KHTLLYGHRI GPEKIDTLGI YGKVNIHSIG FSFSSDLQST QASSLELTEI SRENVPKSGT
PQLSLPFAAR LNTPMGPGRT VVVKGEVNAN AKSFNVDLLA GKSKDIALHL NPRLNIKAFV
RNSFLQESWG EEERNITSFP FSPGMYFEMI IYCDVREFKV AVNGVHSLEY KHRFKELSSI
DTLEINGDIH LLEVRSW*
speed 0.81 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: 0.999999999390662 (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) chr1:236706862G>CN/A show variant in all transcripts   IGV
HGNC symbol LGALS8
Ensembl transcript ID ENST00000323938
Genbank transcript ID N/A
UniProt peptide O00214
alteration type single base exchange
alteration region CDS
DNA changes c.471G>C
cDNA.612G>C
g.25563G>C
AA changes R157S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 157
frameshift no
known variant Reference ID: rs2243525
databasehomozygous (C/C)heterozygousallele carriers
1000G116910562225
ExAC31626-304851141
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1170.201
-1.3010.105
(flanking)1.3270.886
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Acceptor lost25560sequence motif lost- wt: tcag|AGGC
 mu: tcag.AGCC
Acc increased25572wt: 0.42 / mu: 0.70wt: TCTTTTCAGAGGCTGCCATTCGCTGCAAGGTTGAACACCCC
mu: TCTTTTCAGAGCCTGCCATTCGCTGCAAGGTTGAACACCCC		 attc|GCTG
Acc gained255650.35mu: TGTGGCTTCTTTTCAGAGCCTGCCATTCGCTGCAAGGTTGA gcct|GCCA
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      157ENVPKSGTPQLRLPFAARLNTPMG
mutated  not conserved    157ENVPKSGTPQLSLPFAARLNTPM
Ptroglodytes  not conserved  ENSPTRG00000002140  184PQLPSNREGDISKIAPRTVYTKSKDSTVNHTLTCTKIPPMNCVSKSLPFAARLNTPM
Mmulatta  not conserved  ENSMMUG00000015132  184PQLPSNRGDISKIVPRTVYTKSKDSTVNHSLTCTKIPPMNYVSKSLPFAARLNTPM
Fcatus  not conserved  ENSFCAG00000003385  184SQFPSNRGDISKIVPRTVYTKSKGSTANHSLTCAKILPTNCLSKTLPFVARLNSSM
Mmusculus  not conserved  ENSMUSG00000057554  192ENIQKPGKLQLSLPFEARLNASM
Ggallus  not conserved  ENSGALG00000014371  183MYFEGVPYVGKLVSAL
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000037066  165FHLPFRSKLAKGL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000009015  182NQGRSEKLLTFSVPYT
protein features
start (aa)end (aa)featuredetails 
171171CONFLICTS -> V (in Ref. 1; AAB51605).might get lost (downstream of altered splice site)
185193STRANDmight get lost (downstream of altered splice site)
187317DOMAINGalectin 2.might get lost (downstream of altered splice site)
199199CONFLICTR -> G (in Ref. 8; AAL77076).might get lost (downstream of altered splice site)
200207STRANDmight get lost (downstream of altered splice site)
204204CONFLICTK -> Q (in Ref. 1; AAB51605).might get lost (downstream of altered splice site)
213220STRANDmight get lost (downstream of altered splice site)
221224TURNmight get lost (downstream of altered splice site)
225225CONFLICTD -> H (in Ref. 8; AAL77076).might get lost (downstream of altered splice site)
225233STRANDmight get lost (downstream of altered splice site)
234237TURNmight get lost (downstream of altered splice site)
238244STRANDmight get lost (downstream of altered splice site)
246249STRANDmight get lost (downstream of altered splice site)
249255REGIONBeta-galactoside binding (By similarity).might get lost (downstream of altered splice site)
256258STRANDmight get lost (downstream of altered splice site)
259259CONFLICTF -> L (in Ref. 7; AAK16736).might get lost (downstream of altered splice site)
266273STRANDmight get lost (downstream of altered splice site)
275282STRANDmight get lost (downstream of altered splice site)
285291STRANDmight get lost (downstream of altered splice site)
297299HELIXmight get lost (downstream of altered splice site)
302315STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 873 / 873
position (AA) of stopcodon in wt / mu AA sequence 291 / 291
position of stopcodon in wt / mu cDNA 1014 / 1014
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 142 / 142
chromosome 1
strand 1
last intron/exon boundary 865
theoretical NMD boundary in CDS 673
length of CDS 873
coding sequence (CDS) position 471
cDNA position
(for ins/del: last normal base / first normal base)		 612
gDNA position
(for ins/del: last normal base / first normal base)		 25563
chromosomal position
(for ins/del: last normal base / first normal base)		 236706862
original gDNA sequence snippet ACTGTGGCTTCTTTTCAGAGGCTGCCATTCGCTGCAAGGTT
altered gDNA sequence snippet ACTGTGGCTTCTTTTCAGAGCCTGCCATTCGCTGCAAGGTT
original cDNA sequence snippet TCTGGCACGCCCCAGCTTAGGCTGCCATTCGCTGCAAGGTT
altered cDNA sequence snippet TCTGGCACGCCCCAGCTTAGCCTGCCATTCGCTGCAAGGTT
wildtype AA sequence MMLSLNNLQN IIYNPVIPFV GTIPDQLDPG TLIVIRGHVP SDADRAGCIV CNTLINEKWG
REEITYDTPF KREKSFEIVI MVLKDKFQVA VNGKHTLLYG HRIGPEKIDT LGIYGKVNIH
SIGFSFSSDL QSTQASSLEL TEISRENVPK SGTPQLRLPF AARLNTPMGP GRTVVVKGEV
NANAKSFNVD LLAGKSKDIA LHLNPRLNIK AFVRNSFLQE SWGEEERNIT SFPFSPGMYF
EMIIYCDVRE FKVAVNGVHS LEYKHRFKEL SSIDTLEING DIHLLEVRSW *
mutated AA sequence MMLSLNNLQN IIYNPVIPFV GTIPDQLDPG TLIVIRGHVP SDADRAGCIV CNTLINEKWG
REEITYDTPF KREKSFEIVI MVLKDKFQVA VNGKHTLLYG HRIGPEKIDT LGIYGKVNIH
SIGFSFSSDL QSTQASSLEL TEISRENVPK SGTPQLSLPF AARLNTPMGP GRTVVVKGEV
NANAKSFNVD LLAGKSKDIA LHLNPRLNIK AFVRNSFLQE SWGEEERNIT SFPFSPGMYF
EMIIYCDVRE FKVAVNGVHS LEYKHRFKEL SSIDTLEING DIHLLEVRSW *
speed 0.86 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: 0.999999999390662 (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) chr1:236706862G>CN/A show variant in all transcripts   IGV
HGNC symbol LGALS8
Ensembl transcript ID ENST00000526634
Genbank transcript ID N/A
UniProt peptide O00214
alteration type single base exchange
alteration region CDS
DNA changes c.552G>C
cDNA.815G>C
g.25563G>C
AA changes R184S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 184
frameshift no
known variant Reference ID: rs2243525
databasehomozygous (C/C)heterozygousallele carriers
1000G116910562225
ExAC31626-304851141
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1170.201
-1.3010.105
(flanking)1.3270.886
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Acceptor lost25560sequence motif lost- wt: tcag|AGGC
 mu: tcag.AGCC
Acc increased25572wt: 0.42 / mu: 0.70wt: TCTTTTCAGAGGCTGCCATTCGCTGCAAGGTTGAACACCCC
mu: TCTTTTCAGAGCCTGCCATTCGCTGCAAGGTTGAACACCCC		 attc|GCTG
Acc gained255650.35mu: TGTGGCTTCTTTTCAGAGCCTGCCATTCGCTGCAAGGTTGA gcct|GCCA
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      184ENVPKSGTPQLRLPFAARLNTPMG
mutated  not conserved    184PQLSLPFAARLNTPM
Ptroglodytes  not conserved  ENSPTRG00000002140  184PQLPSNREGDISKIAPRTVYTKSKDSTVNHTLTCTKIPPMNCVSKSLPFAARLNTPM
Mmulatta  not conserved  ENSMMUG00000015132  184PQLPSNRGDISKIVPRTVYTKSKDSTVNHSLTCTKIPPMNYVSKSLPFAARLNTPM
Fcatus  not conserved  ENSFCAG00000003385  184SQFPSNRGDISKIVPRTVYTKSKGSTANHSLTCAKILPTNCLSKTLPFVARLNSSM
Mmusculus  not conserved  ENSMUSG00000057554  192ENIQKPGKLQLSLPFEARLNASM
Ggallus  not conserved  ENSGALG00000014371  183MYFEGVPYVGKLVSAL
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000037066  165FHLPFRSKLAKGL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000009015  182NQGRSEKLLTFSVPYT
protein features
start (aa)end (aa)featuredetails 
185193STRANDmight get lost (downstream of altered splice site)
187317DOMAINGalectin 2.might get lost (downstream of altered splice site)
199199CONFLICTR -> G (in Ref. 8; AAL77076).might get lost (downstream of altered splice site)
200207STRANDmight get lost (downstream of altered splice site)
204204CONFLICTK -> Q (in Ref. 1; AAB51605).might get lost (downstream of altered splice site)
213220STRANDmight get lost (downstream of altered splice site)
221224TURNmight get lost (downstream of altered splice site)
225225CONFLICTD -> H (in Ref. 8; AAL77076).might get lost (downstream of altered splice site)
225233STRANDmight get lost (downstream of altered splice site)
234237TURNmight get lost (downstream of altered splice site)
238244STRANDmight get lost (downstream of altered splice site)
246249STRANDmight get lost (downstream of altered splice site)
249255REGIONBeta-galactoside binding (By similarity).might get lost (downstream of altered splice site)
256258STRANDmight get lost (downstream of altered splice site)
259259CONFLICTF -> L (in Ref. 7; AAK16736).might get lost (downstream of altered splice site)
266273STRANDmight get lost (downstream of altered splice site)
275282STRANDmight get lost (downstream of altered splice site)
285291STRANDmight get lost (downstream of altered splice site)
297299HELIXmight get lost (downstream of altered splice site)
302315STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 954 / 954
position (AA) of stopcodon in wt / mu AA sequence 318 / 318
position of stopcodon in wt / mu cDNA 1217 / 1217
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 264 / 264
chromosome 1
strand 1
last intron/exon boundary 1068
theoretical NMD boundary in CDS 754
length of CDS 954
coding sequence (CDS) position 552
cDNA position
(for ins/del: last normal base / first normal base)		 815
gDNA position
(for ins/del: last normal base / first normal base)		 25563
chromosomal position
(for ins/del: last normal base / first normal base)		 236706862
original gDNA sequence snippet ACTGTGGCTTCTTTTCAGAGGCTGCCATTCGCTGCAAGGTT
altered gDNA sequence snippet ACTGTGGCTTCTTTTCAGAGCCTGCCATTCGCTGCAAGGTT
original cDNA sequence snippet TCTGGCACGCCCCAGCTTAGGCTGCCATTCGCTGCAAGGTT
altered cDNA sequence snippet TCTGGCACGCCCCAGCTTAGCCTGCCATTCGCTGCAAGGTT
wildtype AA sequence MMLSLNNLQN IIYNPVIPFV GTIPDQLDPG TLIVIRGHVP SDADRFQVDL QNGSSMKPRA
DVAFHFNPRF KRAGCIVCNT LINEKWGREE ITYDTPFKRE KSFEIVIMVL KDKFQVAVNG
KHTLLYGHRI GPEKIDTLGI YGKVNIHSIG FSFSSDLQST QASSLELTEI SRENVPKSGT
PQLRLPFAAR LNTPMGPGRT VVVKGEVNAN AKSFNVDLLA GKSKDIALHL NPRLNIKAFV
RNSFLQESWG EEERNITSFP FSPGMYFEMI IYCDVREFKV AVNGVHSLEY KHRFKELSSI
DTLEINGDIH LLEVRSW*
mutated AA sequence MMLSLNNLQN IIYNPVIPFV GTIPDQLDPG TLIVIRGHVP SDADRFQVDL QNGSSMKPRA
DVAFHFNPRF KRAGCIVCNT LINEKWGREE ITYDTPFKRE KSFEIVIMVL KDKFQVAVNG
KHTLLYGHRI GPEKIDTLGI YGKVNIHSIG FSFSSDLQST QASSLELTEI SRENVPKSGT
PQLSLPFAAR LNTPMGPGRT VVVKGEVNAN AKSFNVDLLA GKSKDIALHL NPRLNIKAFV
RNSFLQESWG EEERNITSFP FSPGMYFEMI IYCDVREFKV AVNGVHSLEY KHRFKELSSI
DTLEINGDIH LLEVRSW*
speed 0.83 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: 0.999999995417174 (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) chr1:236706862G>CN/A show variant in all transcripts   IGV
HGNC symbol LGALS8
Ensembl transcript ID ENST00000527974
Genbank transcript ID N/A
UniProt peptide O00214
alteration type single base exchange
alteration region CDS
DNA changes c.678G>C
cDNA.827G>C
g.25563G>C
AA changes R226S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 226
frameshift no
known variant Reference ID: rs2243525
databasehomozygous (C/C)heterozygousallele carriers
1000G116910562225
ExAC31626-304851141
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1170.201
-1.3010.105
(flanking)1.3270.886
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Acceptor lost25560sequence motif lost- wt: tcag|AGGC
 mu: tcag.AGCC
Acc increased25572wt: 0.42 / mu: 0.70wt: TCTTTTCAGAGGCTGCCATTCGCTGCAAGGTTGAACACCCC
mu: TCTTTTCAGAGCCTGCCATTCGCTGCAAGGTTGAACACCCC		 attc|GCTG
Acc gained255650.35mu: TGTGGCTTCTTTTCAGAGCCTGCCATTCGCTGCAAGGTTGA gcct|GCCA
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      226TKIPPMNYVSKRLPFAARLNTPMG
mutated  not conserved    226TKIPPMNYVSKSLPFAARLNTPM
Ptroglodytes  not conserved  ENSPTRG00000002140  226TKIPPMNCVSKSLPFAARLNTPM
Mmulatta  not conserved  ENSMMUG00000015132  226TKIPPMNYVSKSLPFAARLNTPM
Fcatus  not conserved  ENSFCAG00000003385  226AKILPTNCLSKTLPFVARLNSSM
Mmusculus  not conserved  ENSMUSG00000057554  234-----------SLPFEAR
Ggallus  not conserved  ENSGALG00000014371  222---PGMYF--EGVPYVGKLVSAL
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000037066  165NQLQFHLPFRSKLAKGL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000009015  211-----EKLLTFSVPYTGCLPSAL
protein features
start (aa)end (aa)featuredetails 
187317DOMAINGalectin 2.lost
225225CONFLICTD -> H (in Ref. 8; AAL77076).might get lost (downstream of altered splice site)
225233STRANDlost
234237TURNmight get lost (downstream of altered splice site)
238244STRANDmight get lost (downstream of altered splice site)
246249STRANDmight get lost (downstream of altered splice site)
249255REGIONBeta-galactoside binding (By similarity).might get lost (downstream of altered splice site)
256258STRANDmight get lost (downstream of altered splice site)
259259CONFLICTF -> L (in Ref. 7; AAK16736).might get lost (downstream of altered splice site)
266273STRANDmight get lost (downstream of altered splice site)
275282STRANDmight get lost (downstream of altered splice site)
285291STRANDmight get lost (downstream of altered splice site)
297299HELIXmight get lost (downstream of altered splice site)
302315STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1080 / 1080
position (AA) of stopcodon in wt / mu AA sequence 360 / 360
position of stopcodon in wt / mu cDNA 1229 / 1229
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 150 / 150
chromosome 1
strand 1
last intron/exon boundary 1080
theoretical NMD boundary in CDS 880
length of CDS 1080
coding sequence (CDS) position 678
cDNA position
(for ins/del: last normal base / first normal base)		 827
gDNA position
(for ins/del: last normal base / first normal base)		 25563
chromosomal position
(for ins/del: last normal base / first normal base)		 236706862
original gDNA sequence snippet ACTGTGGCTTCTTTTCAGAGGCTGCCATTCGCTGCAAGGTT
altered gDNA sequence snippet ACTGTGGCTTCTTTTCAGAGCCTGCCATTCGCTGCAAGGTT
original cDNA sequence snippet ATGAACTATGTGTCAAAGAGGCTGCCATTCGCTGCAAGGTT
altered cDNA sequence snippet ATGAACTATGTGTCAAAGAGCCTGCCATTCGCTGCAAGGTT
wildtype AA sequence MMLSLNNLQN IIYNPVIPFV GTIPDQLDPG TLIVIRGHVP SDADRFQVDL QNGSSMKPRA
DVAFHFNPRF KRAGCIVCNT LINEKWGREE ITYDTPFKRE KSFEIVIMVL KDKFQVAVNG
KHTLLYGHRI GPEKIDTLGI YGKVNIHSIG FSFSSDLQST QASSLELTEI SRENVPKSGT
PQLPSNRGGD ISKIAPRTVY TKSKDSTVNH TLTCTKIPPM NYVSKRLPFA ARLNTPMGPG
RTVVVKGEVN ANAKSFNVDL LAGKSKDIAL HLNPRLNIKA FVRNSFLQES WGEEERNITS
FPFSPGMYFE MIIYCDVREF KVAVNGVHSL EYKHRFKELS SIDTLEINGD IHLLEVRSW*
mutated AA sequence MMLSLNNLQN IIYNPVIPFV GTIPDQLDPG TLIVIRGHVP SDADRFQVDL QNGSSMKPRA
DVAFHFNPRF KRAGCIVCNT LINEKWGREE ITYDTPFKRE KSFEIVIMVL KDKFQVAVNG
KHTLLYGHRI GPEKIDTLGI YGKVNIHSIG FSFSSDLQST QASSLELTEI SRENVPKSGT
PQLPSNRGGD ISKIAPRTVY TKSKDSTVNH TLTCTKIPPM NYVSKSLPFA ARLNTPMGPG
RTVVVKGEVN ANAKSFNVDL LAGKSKDIAL HLNPRLNIKA FVRNSFLQES WGEEERNITS
FPFSPGMYFE MIIYCDVREF KVAVNGVHSL EYKHRFKELS SIDTLEINGD IHLLEVRSW*
speed 0.82 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: 0.999999995417174 (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) chr1:236706862G>CN/A show variant in all transcripts   IGV
HGNC symbol LGALS8
Ensembl transcript ID ENST00000352231
Genbank transcript ID N/A
UniProt peptide O00214
alteration type single base exchange
alteration region CDS
DNA changes c.678G>C
cDNA.878G>C
g.25563G>C
AA changes R226S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 226
frameshift no
known variant Reference ID: rs2243525
databasehomozygous (C/C)heterozygousallele carriers
1000G116910562225
ExAC31626-304851141
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1170.201
-1.3010.105
(flanking)1.3270.886
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Acceptor lost25560sequence motif lost- wt: tcag|AGGC
 mu: tcag.AGCC
Acc increased25572wt: 0.42 / mu: 0.70wt: TCTTTTCAGAGGCTGCCATTCGCTGCAAGGTTGAACACCCC
mu: TCTTTTCAGAGCCTGCCATTCGCTGCAAGGTTGAACACCCC		 attc|GCTG
Acc gained255650.35mu: TGTGGCTTCTTTTCAGAGCCTGCCATTCGCTGCAAGGTTGA gcct|GCCA
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      226TKIPPMNYVSKRLPFAARLNTPMG
mutated  not conserved    226TKIPPMNYVSKSLPFAARLNTPM
Ptroglodytes  not conserved  ENSPTRG00000002140  226TKIPPMNCVSKSLPFAARLNTPM
Mmulatta  not conserved  ENSMMUG00000015132  226TKIPPMNYVSKSLPFAARLNTPM
Fcatus  not conserved  ENSFCAG00000003385  226AKILPTNCLSKTLPFVARLNSSM
Mmusculus  not conserved  ENSMUSG00000057554  234-----------SLPFEAR
Ggallus  not conserved  ENSGALG00000014371  222---PGMYF--EGVPYVGKLVSAL
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000037066  165NQLQFHLPFRSKLAKGL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000009015  211-----EKLLTFSVPYTGCLPSAL
protein features
start (aa)end (aa)featuredetails 
187317DOMAINGalectin 2.lost
225225CONFLICTD -> H (in Ref. 8; AAL77076).might get lost (downstream of altered splice site)
225233STRANDlost
234237TURNmight get lost (downstream of altered splice site)
238244STRANDmight get lost (downstream of altered splice site)
246249STRANDmight get lost (downstream of altered splice site)
249255REGIONBeta-galactoside binding (By similarity).might get lost (downstream of altered splice site)
256258STRANDmight get lost (downstream of altered splice site)
259259CONFLICTF -> L (in Ref. 7; AAK16736).might get lost (downstream of altered splice site)
266273STRANDmight get lost (downstream of altered splice site)
275282STRANDmight get lost (downstream of altered splice site)
285291STRANDmight get lost (downstream of altered splice site)
297299HELIXmight get lost (downstream of altered splice site)
302315STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1080 / 1080
position (AA) of stopcodon in wt / mu AA sequence 360 / 360
position of stopcodon in wt / mu cDNA 1280 / 1280
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 201 / 201
chromosome 1
strand 1
last intron/exon boundary 1131
theoretical NMD boundary in CDS 880
length of CDS 1080
coding sequence (CDS) position 678
cDNA position
(for ins/del: last normal base / first normal base)		 878
gDNA position
(for ins/del: last normal base / first normal base)		 25563
chromosomal position
(for ins/del: last normal base / first normal base)		 236706862
original gDNA sequence snippet ACTGTGGCTTCTTTTCAGAGGCTGCCATTCGCTGCAAGGTT
altered gDNA sequence snippet ACTGTGGCTTCTTTTCAGAGCCTGCCATTCGCTGCAAGGTT
original cDNA sequence snippet ATGAACTATGTGTCAAAGAGGCTGCCATTCGCTGCAAGGTT
altered cDNA sequence snippet ATGAACTATGTGTCAAAGAGCCTGCCATTCGCTGCAAGGTT
wildtype AA sequence MMLSLNNLQN IIYNPVIPFV GTIPDQLDPG TLIVIRGHVP SDADRFQVDL QNGSSMKPRA
DVAFHFNPRF KRAGCIVCNT LINEKWGREE ITYDTPFKRE KSFEIVIMVL KDKFQVAVNG
KHTLLYGHRI GPEKIDTLGI YGKVNIHSIG FSFSSDLQST QASSLELTEI SRENVPKSGT
PQLPSNRGGD ISKIAPRTVY TKSKDSTVNH TLTCTKIPPM NYVSKRLPFA ARLNTPMGPG
RTVVVKGEVN ANAKSFNVDL LAGKSKDIAL HLNPRLNIKA FVRNSFLQES WGEEERNITS
FPFSPGMYFE MIIYCDVREF KVAVNGVHSL EYKHRFKELS SIDTLEINGD IHLLEVRSW*
mutated AA sequence MMLSLNNLQN IIYNPVIPFV GTIPDQLDPG TLIVIRGHVP SDADRFQVDL QNGSSMKPRA
DVAFHFNPRF KRAGCIVCNT LINEKWGREE ITYDTPFKRE KSFEIVIMVL KDKFQVAVNG
KHTLLYGHRI GPEKIDTLGI YGKVNIHSIG FSFSSDLQST QASSLELTEI SRENVPKSGT
PQLPSNRGGD ISKIAPRTVY TKSKDSTVNH TLTCTKIPPM NYVSKSLPFA ARLNTPMGPG
RTVVVKGEVN ANAKSFNVDL LAGKSKDIAL HLNPRLNIKA FVRNSFLQES WGEEERNITS
FPFSPGMYFE MIIYCDVREF KVAVNGVHSL EYKHRFKELS SIDTLEINGD IHLLEVRSW*
speed 0.87 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999995417174 (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) chr1:236706862G>CN/A show variant in all transcripts   IGV
HGNC symbol LGALS8
Ensembl transcript ID ENST00000526589
Genbank transcript ID NM_006499
UniProt peptide O00214
alteration type single base exchange
alteration region CDS
DNA changes c.678G>C
cDNA.1198G>C
g.25563G>C
AA changes R226S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 226
frameshift no
known variant Reference ID: rs2243525
databasehomozygous (C/C)heterozygousallele carriers
1000G116910562225
ExAC31626-304851141
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1170.201
-1.3010.105
(flanking)1.3270.886
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Acceptor lost25560sequence motif lost- wt: tcag|AGGC
 mu: tcag.AGCC
Acc increased25572wt: 0.42 / mu: 0.70wt: TCTTTTCAGAGGCTGCCATTCGCTGCAAGGTTGAACACCCC
mu: TCTTTTCAGAGCCTGCCATTCGCTGCAAGGTTGAACACCCC		 attc|GCTG
Acc gained255650.35mu: TGTGGCTTCTTTTCAGAGCCTGCCATTCGCTGCAAGGTTGA gcct|GCCA
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      226TKIPPMNYVSKRLPFAARLNTPMG
mutated  not conserved    226TKIPPMNYVSKSLPFAARLNTPM
Ptroglodytes  not conserved  ENSPTRG00000002140  226TKIPPMNCVSKSLPFAARLNTPM
Mmulatta  not conserved  ENSMMUG00000015132  226TKIPPMNYVSKSLPFAARLNTPM
Fcatus  not conserved  ENSFCAG00000003385  226AKILPTNCLSKTLPFVARLNSSM
Mmusculus  not conserved  ENSMUSG00000057554  234-----------SLPFEAR
Ggallus  not conserved  ENSGALG00000014371  222---PGMYF--EGVPYVGKLVSAL
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000037066  165NQLQFHLPFRSKLAKGL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000009015  211-----EKLLTFSVPYTGCLPSAL
protein features
start (aa)end (aa)featuredetails 
187317DOMAINGalectin 2.lost
225225CONFLICTD -> H (in Ref. 8; AAL77076).might get lost (downstream of altered splice site)
225233STRANDlost
234237TURNmight get lost (downstream of altered splice site)
238244STRANDmight get lost (downstream of altered splice site)
246249STRANDmight get lost (downstream of altered splice site)
249255REGIONBeta-galactoside binding (By similarity).might get lost (downstream of altered splice site)
256258STRANDmight get lost (downstream of altered splice site)
259259CONFLICTF -> L (in Ref. 7; AAK16736).might get lost (downstream of altered splice site)
266273STRANDmight get lost (downstream of altered splice site)
275282STRANDmight get lost (downstream of altered splice site)
285291STRANDmight get lost (downstream of altered splice site)
297299HELIXmight get lost (downstream of altered splice site)
302315STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1080 / 1080
position (AA) of stopcodon in wt / mu AA sequence 360 / 360
position of stopcodon in wt / mu cDNA 1600 / 1600
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 521 / 521
chromosome 1
strand 1
last intron/exon boundary 1451
theoretical NMD boundary in CDS 880
length of CDS 1080
coding sequence (CDS) position 678
cDNA position
(for ins/del: last normal base / first normal base)		 1198
gDNA position
(for ins/del: last normal base / first normal base)		 25563
chromosomal position
(for ins/del: last normal base / first normal base)		 236706862
original gDNA sequence snippet ACTGTGGCTTCTTTTCAGAGGCTGCCATTCGCTGCAAGGTT
altered gDNA sequence snippet ACTGTGGCTTCTTTTCAGAGCCTGCCATTCGCTGCAAGGTT
original cDNA sequence snippet ATGAACTATGTGTCAAAGAGGCTGCCATTCGCTGCAAGGTT
altered cDNA sequence snippet ATGAACTATGTGTCAAAGAGCCTGCCATTCGCTGCAAGGTT
wildtype AA sequence MMLSLNNLQN IIYNPVIPFV GTIPDQLDPG TLIVIRGHVP SDADRFQVDL QNGSSMKPRA
DVAFHFNPRF KRAGCIVCNT LINEKWGREE ITYDTPFKRE KSFEIVIMVL KDKFQVAVNG
KHTLLYGHRI GPEKIDTLGI YGKVNIHSIG FSFSSDLQST QASSLELTEI SRENVPKSGT
PQLPSNRGGD ISKIAPRTVY TKSKDSTVNH TLTCTKIPPM NYVSKRLPFA ARLNTPMGPG
RTVVVKGEVN ANAKSFNVDL LAGKSKDIAL HLNPRLNIKA FVRNSFLQES WGEEERNITS
FPFSPGMYFE MIIYCDVREF KVAVNGVHSL EYKHRFKELS SIDTLEINGD IHLLEVRSW*
mutated AA sequence MMLSLNNLQN IIYNPVIPFV GTIPDQLDPG TLIVIRGHVP SDADRFQVDL QNGSSMKPRA
DVAFHFNPRF KRAGCIVCNT LINEKWGREE ITYDTPFKRE KSFEIVIMVL KDKFQVAVNG
KHTLLYGHRI GPEKIDTLGI YGKVNIHSIG FSFSSDLQST QASSLELTEI SRENVPKSGT
PQLPSNRGGD ISKIAPRTVY TKSKDSTVNH TLTCTKIPPM NYVSKSLPFA ARLNTPMGPG
RTVVVKGEVN ANAKSFNVDL LAGKSKDIAL HLNPRLNIKA FVRNSFLQES WGEEERNITS
FPFSPGMYFE MIIYCDVREF KVAVNGVHSL EYKHRFKELS SIDTLEINGD IHLLEVRSW*
speed 0.81 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: 0.999999995417174 (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) chr1:236706862G>CN/A show variant in all transcripts   IGV
HGNC symbol LGALS8
Ensembl transcript ID ENST00000450372
Genbank transcript ID N/A
UniProt peptide O00214
alteration type single base exchange
alteration region CDS
DNA changes c.678G>C
cDNA.1059G>C
g.25563G>C
AA changes R226S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 226
frameshift no
known variant Reference ID: rs2243525
databasehomozygous (C/C)heterozygousallele carriers
1000G116910562225
ExAC31626-304851141
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1170.201
-1.3010.105
(flanking)1.3270.886
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Acceptor lost25560sequence motif lost- wt: tcag|AGGC
 mu: tcag.AGCC
Acc increased25572wt: 0.42 / mu: 0.70wt: TCTTTTCAGAGGCTGCCATTCGCTGCAAGGTTGAACACCCC
mu: TCTTTTCAGAGCCTGCCATTCGCTGCAAGGTTGAACACCCC		 attc|GCTG
Acc gained255650.35mu: TGTGGCTTCTTTTCAGAGCCTGCCATTCGCTGCAAGGTTGA gcct|GCCA
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      226TKIPPMNYVSKRLPFAARLNTPMG
mutated  not conserved    226TKIPPMNYVSKSLPFAARLNTPM
Ptroglodytes  not conserved  ENSPTRG00000002140  226TKIPPMNCVSKSLPFAARLNTPM
Mmulatta  not conserved  ENSMMUG00000015132  226TKIPPMNYVSKSLPFAARLNTPM
Fcatus  not conserved  ENSFCAG00000003385  226AKILPTNCLSKTLPFVARLNSSM
Mmusculus  not conserved  ENSMUSG00000057554  234-----------SLPFEAR
Ggallus  not conserved  ENSGALG00000014371  222---PGMYF--EGVPYVGKLVSAL
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000037066  165NQLQFHLPFRSKLAKGL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000009015  211-----EKLLTFSVPYTGCLPSAL
protein features
start (aa)end (aa)featuredetails 
187317DOMAINGalectin 2.lost
225225CONFLICTD -> H (in Ref. 8; AAL77076).might get lost (downstream of altered splice site)
225233STRANDlost
234237TURNmight get lost (downstream of altered splice site)
238244STRANDmight get lost (downstream of altered splice site)
246249STRANDmight get lost (downstream of altered splice site)
249255REGIONBeta-galactoside binding (By similarity).might get lost (downstream of altered splice site)
256258STRANDmight get lost (downstream of altered splice site)
259259CONFLICTF -> L (in Ref. 7; AAK16736).might get lost (downstream of altered splice site)
266273STRANDmight get lost (downstream of altered splice site)
275282STRANDmight get lost (downstream of altered splice site)
285291STRANDmight get lost (downstream of altered splice site)
297299HELIXmight get lost (downstream of altered splice site)
302315STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1080 / 1080
position (AA) of stopcodon in wt / mu AA sequence 360 / 360
position of stopcodon in wt / mu cDNA 1461 / 1461
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 382 / 382
chromosome 1
strand 1
last intron/exon boundary 1312
theoretical NMD boundary in CDS 880
length of CDS 1080
coding sequence (CDS) position 678
cDNA position
(for ins/del: last normal base / first normal base)		 1059
gDNA position
(for ins/del: last normal base / first normal base)		 25563
chromosomal position
(for ins/del: last normal base / first normal base)		 236706862
original gDNA sequence snippet ACTGTGGCTTCTTTTCAGAGGCTGCCATTCGCTGCAAGGTT
altered gDNA sequence snippet ACTGTGGCTTCTTTTCAGAGCCTGCCATTCGCTGCAAGGTT
original cDNA sequence snippet ATGAACTATGTGTCAAAGAGGCTGCCATTCGCTGCAAGGTT
altered cDNA sequence snippet ATGAACTATGTGTCAAAGAGCCTGCCATTCGCTGCAAGGTT
wildtype AA sequence MMLSLNNLQN IIYNPVIPFV GTIPDQLDPG TLIVIRGHVP SDADRFQVDL QNGSSMKPRA
DVAFHFNPRF KRAGCIVCNT LINEKWGREE ITYDTPFKRE KSFEIVIMVL KDKFQVAVNG
KHTLLYGHRI GPEKIDTLGI YGKVNIHSIG FSFSSDLQST QASSLELTEI SRENVPKSGT
PQLPSNRGGD ISKIAPRTVY TKSKDSTVNH TLTCTKIPPM NYVSKRLPFA ARLNTPMGPG
RTVVVKGEVN ANAKSFNVDL LAGKSKDIAL HLNPRLNIKA FVRNSFLQES WGEEERNITS
FPFSPGMYFE MIIYCDVREF KVAVNGVHSL EYKHRFKELS SIDTLEINGD IHLLEVRSW*
mutated AA sequence MMLSLNNLQN IIYNPVIPFV GTIPDQLDPG TLIVIRGHVP SDADRFQVDL QNGSSMKPRA
DVAFHFNPRF KRAGCIVCNT LINEKWGREE ITYDTPFKRE KSFEIVIMVL KDKFQVAVNG
KHTLLYGHRI GPEKIDTLGI YGKVNIHSIG FSFSSDLQST QASSLELTEI SRENVPKSGT
PQLPSNRGGD ISKIAPRTVY TKSKDSTVNH TLTCTKIPPM NYVSKSLPFA ARLNTPMGPG
RTVVVKGEVN ANAKSFNVDL LAGKSKDIAL HLNPRLNIKA FVRNSFLQES WGEEERNITS
FPFSPGMYFE MIIYCDVREF KVAVNGVHSL EYKHRFKELS SIDTLEINGD IHLLEVRSW*
speed 0.79 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

Problems