Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999936 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:58151286T>CN/A show variant in all transcripts   IGV
HGNC symbol ZNF211
Ensembl transcript ID ENST00000541801
Genbank transcript ID NM_001265598
UniProt peptide Q13398
alteration type single base exchange
alteration region CDS
DNA changes c.41T>C
cDNA.182T>C
g.9526T>C
AA changes I14T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 14
frameshift no
known variant Reference ID: rs4801508
databasehomozygous (C/C)heterozygousallele carriers
1000G129814943
ExAC26619162182
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1350.001
-2.9850
(flanking)-0.1380.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased9520wt: 0.4079 / mu: 0.4481 (marginal change - not scored)wt: ATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTCTC
mu: ATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTCTC		 tagg|ACTT
Acc marginally decreased9519wt: 0.9894 / mu: 0.9882 (marginal change - not scored)wt: CATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTCT
mu: CATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTCT		 ttag|GACT
Acc marginally increased9518wt: 0.9180 / mu: 0.9461 (marginal change - not scored)wt: ACATGTCCTGTCTTTCCCTTAGGACTTATATCATCCTGGTC
mu: ACATGTCCTGTCTTTCCCTTAGGACTTACATCATCCTGGTC		 ctta|GGAC
distance from splice site 7
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      14ENFALTSSLGLISSWSHVVAQLGL
mutated  not conserved    14ENFALTSSLGLTSSWSHVVAQLG
Ptroglodytes  no alignment  ENSPTRG00000011565  n/a
Mmulatta  not conserved  ENSMMUG00000005333  68ENFALTSSLGLTSSWSHVVAQLG
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
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 1668 / 1668
position (AA) of stopcodon in wt / mu AA sequence 556 / 556
position of stopcodon in wt / mu cDNA 1809 / 1809
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 19
strand 1
last intron/exon boundary 332
theoretical NMD boundary in CDS 140
length of CDS 1668
coding sequence (CDS) position 41
cDNA position
(for ins/del: last normal base / first normal base)		 182
gDNA position
(for ins/del: last normal base / first normal base)		 9526
chromosomal position
(for ins/del: last normal base / first normal base)		 58151286
original gDNA sequence snippet TGTCTTTCCCTTAGGACTTATATCATCCTGGTCTCATGTAG
altered gDNA sequence snippet TGTCTTTCCCTTAGGACTTACATCATCCTGGTCTCATGTAG
original cDNA sequence snippet TACGTCCTCCCTGGGACTTATATCATCCTGGTCTCATGTAG
altered cDNA sequence snippet TACGTCCTCCCTGGGACTTACATCATCCTGGTCTCATGTAG
wildtype AA sequence MLENFALTSS LGLISSWSHV VAQLGLGEVP SVLHRMFMTP ASARWDQRGP GLHEWHLGKG
MSSGCWCGVE HEETPSEQRI SGERVPQFRT SKEGSSSQNA DSCEICCLVL RDILHLAEHQ
GTNCGQKLHT CGKQFYISAN LQQHQRQHIT EAPFRSYVDT ASFTQSCIVH VSEKPFTCRE
IRKDFLANMR FLHQDATQTG EKPNNSNKCA VAFYSGKSHH NWGKCSKAFS HIDTLVQDQR
ILTREGLFEC SKCGKACTRR CNLIQHQKVH SEERPYECNE CGKFFTYYSS FIIHQRVHTG
ERPYACPECG KSFSQIYSLN SHRKVHTGER PYECGECGKS FSQRSNLMQH RRVHTGERPY
ECSECGKSFS QNFSLIYHQR VHTGERPHEC NECGKSFSRS SSLIHHRRLH TGERPYECSK
CGKSFKQSSS FSSHRKVHTG ERPYVCGECG KSFSHSSNLK NHQRVHTGER PVECSECSKS
FSCKSNLIKH LRVHTGERPY ECSECGKSFS QSSSLIQHRR VHTGKRPYQC SQCGKSFGCK
SVLIQHQRVH IGEKP*
mutated AA sequence MLENFALTSS LGLTSSWSHV VAQLGLGEVP SVLHRMFMTP ASARWDQRGP GLHEWHLGKG
MSSGCWCGVE HEETPSEQRI SGERVPQFRT SKEGSSSQNA DSCEICCLVL RDILHLAEHQ
GTNCGQKLHT CGKQFYISAN LQQHQRQHIT EAPFRSYVDT ASFTQSCIVH VSEKPFTCRE
IRKDFLANMR FLHQDATQTG EKPNNSNKCA VAFYSGKSHH NWGKCSKAFS HIDTLVQDQR
ILTREGLFEC SKCGKACTRR CNLIQHQKVH SEERPYECNE CGKFFTYYSS FIIHQRVHTG
ERPYACPECG KSFSQIYSLN SHRKVHTGER PYECGECGKS FSQRSNLMQH RRVHTGERPY
ECSECGKSFS QNFSLIYHQR VHTGERPHEC NECGKSFSRS SSLIHHRRLH TGERPYECSK
CGKSFKQSSS FSSHRKVHTG ERPYVCGECG KSFSHSSNLK NHQRVHTGER PVECSECSKS
FSCKSNLIKH LRVHTGERPY ECSECGKSFS QSSSLIQHRR VHTGKRPYQC SQCGKSFGCK
SVLIQHQRVH IGEKP*
speed 1.03 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