Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999979914 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM993300)
  • known disease mutation: rs1102 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:100382048G>CN/A show variant in all transcripts   IGV
HGNC symbol AGL
Ensembl transcript ID ENST00000361522
Genbank transcript ID NM_000645
UniProt peptide P35573
alteration type single base exchange
alteration region CDS
DNA changes c.4291G>C
cDNA.4553G>C
g.66409G>C
AA changes G1431R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1431
frameshift no
known variant Reference ID: rs118203964
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs1102 (pathogenic for Glycogen storage disease IIIa) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)

known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.3791
5.861
(flanking)5.861
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased66404wt: 0.80 / mu: 0.97wt: TTATCACCAAGGACC
mu: TTATCACCAACGACC		 ATCA|ccaa
Donor increased66407wt: 0.38 / mu: 0.47wt: TCACCAAGGACCTGT
mu: TCACCAACGACCTGT		 ACCA|agga
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1431YNLAKGFNYHQGPEWLWPIGYFLR
mutated  not conserved    1431YNLAKGFNYHQRPEWLWPIGY
Ptroglodytes  all identical  ENSPTRG00000000997  1448YNLAKGFNYHQGPEWLWPIGYFL
Mmulatta  all identical  ENSMMUG00000021441  1449YNLAKGFNYHQGPEWLWPIGYFL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033400  1448YNLARGFNYHQGPEWLWPIGYFL
Ggallus  all identical  ENSGALG00000005407  1447YNVARGFNYHQGPEWLWPIGYFL
Trubripes  all identical  ENSTRUG00000012741  1448YNLARGFNYHQGPEWLWPVGYFL
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0034618  1539CTVAHGANYHQGPEWVWPIGFYL
Celegans  all identical  R06A4.8  1379KKTAKGWNYHQGPEWLFVAG
Xtropicalis  all identical  ENSXETG00000013185  1448YNLSKGFNYHQGPEWMWPIGYFL
protein features
start (aa)end (aa)featuredetails 
15321532REGIONAmylo-1,6-glucosidase. - EXACT POSITION UNKNOWNmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4548 / 4548
position (AA) of stopcodon in wt / mu AA sequence 1516 / 1516
position of stopcodon in wt / mu cDNA 4810 / 4810
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 263 / 263
chromosome 1
strand 1
last intron/exon boundary 4693
theoretical NMD boundary in CDS 4380
length of CDS 4548
coding sequence (CDS) position 4291
cDNA position
(for ins/del: last normal base / first normal base)		 4553
gDNA position
(for ins/del: last normal base / first normal base)		 66409
chromosomal position
(for ins/del: last normal base / first normal base)		 100382048
original gDNA sequence snippet AAGGTTTCAATTATCACCAAGGACCTGTAAGAATTTCATTT
altered gDNA sequence snippet AAGGTTTCAATTATCACCAACGACCTGTAAGAATTTCATTT
original cDNA sequence snippet AAGGTTTCAATTATCACCAAGGACCTGAGTGGCTGTGGCCT
altered cDNA sequence snippet AAGGTTTCAATTATCACCAACGACCTGAGTGGCTGTGGCCT
wildtype AA sequence MSLLTCAFYL GYELQFRLGP TLQGKAVTVY TNYPFPGETF NREKFRSLDW ENPTEREDDS
DKYCKLNLQQ SGSFQYYFLQ GNEKSGGGYI VVDPILRVGA DNHVLPLDCV TLQTFLAKCL
GPFDEWESRL RVAKESGYNM IHFTPLQTLG LSRSCYSLAN QLELNPDFSR PNRKYTWNDV
GQLVEKLKKE WNVICITDVV YNHTAANSKW IQEHPECAYN LVNSPHLKPA WVLDRALWRF
SCDVAEGKYK EKGIPALIEN DHHMNSIRKI IWEDIFPKLK LWEFFQVDVN KAVEQFRRLL
TQENRRVTKS DPNQHLTIIQ DPEYRRFGCT VDMNIALTTF IPHDKGPAAI EECCNWFHKR
MEELNSEKHR LINYHQEQAV NCLLGNVFYE RLAGHGPKLG PVTRKHPLVT RYFTFPFEEI
DFSMEESMIH LPNKACFLMA HNGWVMGDDP LRNFAEPGSE VYLRRELICW GDSVKLRYGN
KPEDCPYLWA HMKKYTEITA TYFQGVRLDN CHSTPLHVAE YMLDAARNLQ PNLYVVAELF
TGSEDLDNVF VTRLGISSLI REAMSAYNSH EEGRLVYRYG GEPVGSFVQP CLRPLMPAIA
HALFMDITHD NECPIVHRSA YDALPSTTIV SMACCASGST RGYDELVPHQ ISVVSEERFY
TKWNPEALPS NTGEVNFQSG IIAARCAISK LHQELGAKGF IQVYVDQVDE DIVAVTRHSP
SIHQSVVAVS RTAFRNPKTS FYSKEVPQMC IPGKIEEVVL EARTIERNTK PYRKDENSIN
GTPDITVEIR EHIQLNESKI VKQAGVATKG PNEYIQEIEF ENLSPGSVII FRVSLDPHAQ
VAVGILRNHL TQFSPHFKSG SLAVDNADPI LKIPFASLAS RLTLAELNQI LYRCESEEKE
DGGGCYDIPN WSALKYAGLQ GLMSVLAEIR PKNDLGHPFC NNLRSGDWMI DYVSNRLISR
SGTIAEVGKW LQAMFFYLKQ IPRYLIPCYF DAILIGAYTT LLDTAWKQMS SFVQNGSTFV
KHLSLGSVQL CGVGKFPSLP ILSPALMDVP YRLNEITKEK EQCCVSLAAG LPHFSSGIFR
CWGRDTFIAL RGILLITGRY VEARNIILAF AGTLRHGLIP NLLGEGIYAR YNCRDAVWWW
LQCIQDYCKM VPNGLDILKC PVSRMYPTDD SAPLPAGTLD QPLFEVIQEA MQKHMQGIQF
RERNAGPQID RNMKDEGFNI TAGVDEETGF VYGGNRFNCG TWMDKMGESD RARNRGIPAT
PRDGSAVEIV GLSKSAVRWL LELSKKNIFP YHEVTVKRHG KAIKVSYDEW NRKIQDNFEK
LFHVSEDPSD LNEKHPNLVH KRGIYKDSYG ASSPWCDYQL RPNFTIAMVV APELFTTEKA
WKALEIAEKK LLGPLGMKTL DPDDMVYCGI YDNALDNDNY NLAKGFNYHQ GPEWLWPIGY
FLRAKLYFSR LMGPETTAKT IVLVKNVLSR HYVHLERSPW KGLPELTNEN AQYCPFSCET
QAWSIATILE TLYDL*
mutated AA sequence MSLLTCAFYL GYELQFRLGP TLQGKAVTVY TNYPFPGETF NREKFRSLDW ENPTEREDDS
DKYCKLNLQQ SGSFQYYFLQ GNEKSGGGYI VVDPILRVGA DNHVLPLDCV TLQTFLAKCL
GPFDEWESRL RVAKESGYNM IHFTPLQTLG LSRSCYSLAN QLELNPDFSR PNRKYTWNDV
GQLVEKLKKE WNVICITDVV YNHTAANSKW IQEHPECAYN LVNSPHLKPA WVLDRALWRF
SCDVAEGKYK EKGIPALIEN DHHMNSIRKI IWEDIFPKLK LWEFFQVDVN KAVEQFRRLL
TQENRRVTKS DPNQHLTIIQ DPEYRRFGCT VDMNIALTTF IPHDKGPAAI EECCNWFHKR
MEELNSEKHR LINYHQEQAV NCLLGNVFYE RLAGHGPKLG PVTRKHPLVT RYFTFPFEEI
DFSMEESMIH LPNKACFLMA HNGWVMGDDP LRNFAEPGSE VYLRRELICW GDSVKLRYGN
KPEDCPYLWA HMKKYTEITA TYFQGVRLDN CHSTPLHVAE YMLDAARNLQ PNLYVVAELF
TGSEDLDNVF VTRLGISSLI REAMSAYNSH EEGRLVYRYG GEPVGSFVQP CLRPLMPAIA
HALFMDITHD NECPIVHRSA YDALPSTTIV SMACCASGST RGYDELVPHQ ISVVSEERFY
TKWNPEALPS NTGEVNFQSG IIAARCAISK LHQELGAKGF IQVYVDQVDE DIVAVTRHSP
SIHQSVVAVS RTAFRNPKTS FYSKEVPQMC IPGKIEEVVL EARTIERNTK PYRKDENSIN
GTPDITVEIR EHIQLNESKI VKQAGVATKG PNEYIQEIEF ENLSPGSVII FRVSLDPHAQ
VAVGILRNHL TQFSPHFKSG SLAVDNADPI LKIPFASLAS RLTLAELNQI LYRCESEEKE
DGGGCYDIPN WSALKYAGLQ GLMSVLAEIR PKNDLGHPFC NNLRSGDWMI DYVSNRLISR
SGTIAEVGKW LQAMFFYLKQ IPRYLIPCYF DAILIGAYTT LLDTAWKQMS SFVQNGSTFV
KHLSLGSVQL CGVGKFPSLP ILSPALMDVP YRLNEITKEK EQCCVSLAAG LPHFSSGIFR
CWGRDTFIAL RGILLITGRY VEARNIILAF AGTLRHGLIP NLLGEGIYAR YNCRDAVWWW
LQCIQDYCKM VPNGLDILKC PVSRMYPTDD SAPLPAGTLD QPLFEVIQEA MQKHMQGIQF
RERNAGPQID RNMKDEGFNI TAGVDEETGF VYGGNRFNCG TWMDKMGESD RARNRGIPAT
PRDGSAVEIV GLSKSAVRWL LELSKKNIFP YHEVTVKRHG KAIKVSYDEW NRKIQDNFEK
LFHVSEDPSD LNEKHPNLVH KRGIYKDSYG ASSPWCDYQL RPNFTIAMVV APELFTTEKA
WKALEIAEKK LLGPLGMKTL DPDDMVYCGI YDNALDNDNY NLAKGFNYHQ RPEWLWPIGY
FLRAKLYFSR LMGPETTAKT IVLVKNVLSR HYVHLERSPW KGLPELTNEN AQYCPFSCET
QAWSIATILE TLYDL*
speed 0.96 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