Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999998908475 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:116973182T>CN/A show variant in all transcripts   IGV
HGNC symbol ZUP1
Ensembl transcript ID ENST00000368576
Genbank transcript ID NM_145062
UniProt peptide Q96AP4
alteration type single base exchange
alteration region CDS
DNA changes c.1135A>G
cDNA.1379A>G
g.16776A>G
AA changes N379D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 379
frameshift no
known variant Reference ID: rs4946188
databasehomozygous (C/C)heterozygousallele carriers
1000G43011701600
ExAC81381649124629
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.380.523
0.2790.347
(flanking)-0.3450.326
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained167750.85mu: GCTTACGACGATTGC TTAC|gacg
distance from splice site 16
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      379LLSSLLQNDAYNDCLKGMLIPCIP
mutated  all conserved    379LLSSLLQNDAYDDCLKGMLIPCI
Ptroglodytes  all conserved  ENSPTRG00000018536  379LLSSLLQNDAYDDCLKGMSIPCI
Mmulatta  all conserved  ENSMMUG00000001806  377LLSSLLQNDAYDDCLKGMSVPCI
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000039531  378LLSSLLQSDVYGDCLKGMAVPCI
Ggallus  all identical  ENSGALG00000014940  222LLSSLLQNSLYNDCLRDIALIPSI
Trubripes  not conserved  ENSTRUG00000006918  396LLSSLHRLETYAAILQEKTV
Drerio  not conserved  ENSDARG00000059983  407LLSSLHRMEQYKHL--PVSVPSI
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000014074  413YHNCLQACRSIPCI
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1737 / 1737
position (AA) of stopcodon in wt / mu AA sequence 579 / 579
position of stopcodon in wt / mu cDNA 1981 / 1981
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 245 / 245
chromosome 6
strand -1
last intron/exon boundary 1934
theoretical NMD boundary in CDS 1639
length of CDS 1737
coding sequence (CDS) position 1135
cDNA position
(for ins/del: last normal base / first normal base)		 1379
gDNA position
(for ins/del: last normal base / first normal base)		 16776
chromosomal position
(for ins/del: last normal base / first normal base)		 116973182
original gDNA sequence snippet TATTACAAAATGATGCTTACAACGATTGCTTAAAAGGTATG
altered gDNA sequence snippet TATTACAAAATGATGCTTACGACGATTGCTTAAAAGGTATG
original cDNA sequence snippet TATTACAAAATGATGCTTACAACGATTGCTTAAAAGGTATG
altered cDNA sequence snippet TATTACAAAATGATGCTTACGACGATTGCTTAAAAGGTATG
wildtype AA sequence MLSCNICGET VTSEPDMKAH LIVHMESEII CPFCKLSGVN YDEMCFHIET AHFEQNTLER
NFERINTVQY GTSDNKKDNT LQCGMEVNSS ILSGCASNHP KNSAQNLTKD STLKHEGFYS
ENLTESRKFL KSREKQSSLT EIKGSVYETT YSPPECPFCG KIEEHSEDME THVKTKHANL
LDIPLEDCDQ PLYDCPMCGL ICTNYHILQE HVDLHLEENS FQQGMDRVQC SGDLQLAHQL
QQEEDRKRRS EESRQEIEEF QKLQRQYGLD NSGGYKQQQL RNMEIEVNRG RMPPSEFHRR
KADMMESLAL GFDDGKTKTS GIIEALHRYY QNAATDVRRV WLSSVVDHFH SSLGDKGWGC
GYRNFQMLLS SLLQNDAYND CLKGMLIPCI PKIQSMIEDA WKEGFDPQGA SQLNNRLQGT
KAWIGACEVY ILLTSLRVKC HIVDFHKSTG PLGTHPRLFE WILNYYSSEG EGSPKVVCTS
KPPIYLQHQG HSRTVIGIEE KKNRTLCLLI LDPGCPSREM QKLLKQDIEA SSLKQLRKSM
GNLKHKQYQI LAVEGALSLE EKLARRQASQ VFTAEKIP*
mutated AA sequence MLSCNICGET VTSEPDMKAH LIVHMESEII CPFCKLSGVN YDEMCFHIET AHFEQNTLER
NFERINTVQY GTSDNKKDNT LQCGMEVNSS ILSGCASNHP KNSAQNLTKD STLKHEGFYS
ENLTESRKFL KSREKQSSLT EIKGSVYETT YSPPECPFCG KIEEHSEDME THVKTKHANL
LDIPLEDCDQ PLYDCPMCGL ICTNYHILQE HVDLHLEENS FQQGMDRVQC SGDLQLAHQL
QQEEDRKRRS EESRQEIEEF QKLQRQYGLD NSGGYKQQQL RNMEIEVNRG RMPPSEFHRR
KADMMESLAL GFDDGKTKTS GIIEALHRYY QNAATDVRRV WLSSVVDHFH SSLGDKGWGC
GYRNFQMLLS SLLQNDAYDD CLKGMLIPCI PKIQSMIEDA WKEGFDPQGA SQLNNRLQGT
KAWIGACEVY ILLTSLRVKC HIVDFHKSTG PLGTHPRLFE WILNYYSSEG EGSPKVVCTS
KPPIYLQHQG HSRTVIGIEE KKNRTLCLLI LDPGCPSREM QKLLKQDIEA SSLKQLRKSM
GNLKHKQYQI LAVEGALSLE EKLARRQASQ VFTAEKIP*
speed 0.97 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