Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999998755024963 (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 CM1111300)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:38028634G>TN/A show variant in all transcripts   IGV
HGNC symbol ZPBP2
Ensembl transcript ID ENST00000348931
Genbank transcript ID NM_199321
UniProt peptide Q6X784
alteration type single base exchange
alteration region CDS
DNA changes c.518G>T
cDNA.709G>T
g.4218G>T
AA changes S173I Score: 142 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 173
frameshift no
known variant Reference ID: rs11557467
databasehomozygous (T/T)heterozygousallele carriers
1000G37711471524
ExAC12562764320205

known disease mutation at this position, please check HGMD for details (HGMD ID CM1111300)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6670.462
1.0160.43
(flanking)-0.1810.306
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 108
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      173VFFRVLKKILDSLISDLSCHVIEP
mutated  not conserved    173VFFRVLKKILDILISDLSC
Ptroglodytes  all identical  ENSPTRG00000009105  173VFFRVLKKILDSLISDLSC
Mmulatta  all conserved  ENSMMUG00000017341  172VFFRVLKKILDNLMSDLSCH
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000017195  172LLFRVLKKILDNLISDLLCH
Ggallus  all identical  ENSGALG00000013484  196RFVEELKKIMESGDSDLTVKSGG
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1017 / 1017
position (AA) of stopcodon in wt / mu AA sequence 339 / 339
position of stopcodon in wt / mu cDNA 1208 / 1208
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 192 / 192
chromosome 17
strand 1
last intron/exon boundary 1081
theoretical NMD boundary in CDS 839
length of CDS 1017
coding sequence (CDS) position 518
cDNA position
(for ins/del: last normal base / first normal base)		 709
gDNA position
(for ins/del: last normal base / first normal base)		 4218
chromosomal position
(for ins/del: last normal base / first normal base)		 38028634
original gDNA sequence snippet GCTGAAGAAAATCTTGGATAGTCTAATTTCTGATTTGTCAT
altered gDNA sequence snippet GCTGAAGAAAATCTTGGATATTCTAATTTCTGATTTGTCAT
original cDNA sequence snippet GCTGAAGAAAATCTTGGATAGTCTAATTTCTGATTTGTCAT
altered cDNA sequence snippet GCTGAAGAAAATCTTGGATATTCTAATTTCTGATTTGTCAT
wildtype AA sequence MMRTCVLLSA VLWCLTGVQC PRFTLFNKKG FIYGKTGQPD KIYVELHQNS PVLICMDFKL
SKKEIVDPTY LWIGPNEKTL TGNNRINITE TGQLMVKDFL EPLSGLYTCT LSYKTVKAET
QEEKTVKKRY DFMVFAYREP DYSYQMAVRF TTRSCIGRYN DVFFRVLKKI LDSLISDLSC
HVIEPSYKCH SVEIPEHGLI HELFIAFQVN PFAPGWKGAC NGSVDCEDTT NHNILQARDR
IEDFFRSQAY IFYHNFNKTL PAMHFVDHSL QVVRLDSCRP GFGKNERLHS NCASCCVVCS
PATFSPDVNV TCQTCVSVLT YGAKSCPQTS NKNQQYED*
mutated AA sequence MMRTCVLLSA VLWCLTGVQC PRFTLFNKKG FIYGKTGQPD KIYVELHQNS PVLICMDFKL
SKKEIVDPTY LWIGPNEKTL TGNNRINITE TGQLMVKDFL EPLSGLYTCT LSYKTVKAET
QEEKTVKKRY DFMVFAYREP DYSYQMAVRF TTRSCIGRYN DVFFRVLKKI LDILISDLSC
HVIEPSYKCH SVEIPEHGLI HELFIAFQVN PFAPGWKGAC NGSVDCEDTT NHNILQARDR
IEDFFRSQAY IFYHNFNKTL PAMHFVDHSL QVVRLDSCRP GFGKNERLHS NCASCCVVCS
PATFSPDVNV TCQTCVSVLT YGAKSCPQTS NKNQQYED*
speed 1.18 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