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mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999946039 (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) chr16:84028014C>GN/A show variant in all transcripts   IGV
HGNC symbol NECAB2
Ensembl transcript ID ENST00000305202
Genbank transcript ID NM_019065
UniProt peptide Q7Z6G3
alteration type single base exchange
alteration region CDS
DNA changes c.704C>G
cDNA.721C>G
g.25778C>G
AA changes T235S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 235
frameshift no
known variant Reference ID: rs2292324
databasehomozygous (G/G)heterozygousallele carriers
1000G196730926
ExAC18131345915272
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3630.446
0.5570.36
(flanking)0.4150.261
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc decreased25788wt: 0.91 / mu: 0.82wt: CAAGGCAAGACCCTTCCATCTGGTGAGAGAAAGCGGGGGCC
mu: CAAGGCAAGAGCCTTCCATCTGGTGAGAGAAAGCGGGGGCC		 atct|GGTG
Donor gained257720.72mu: ACAAGGCAAGAGCCT AAGG|caag
distance from splice site 12
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      235NHKLMAMEQGKTLPSATEDAKEEG
mutated  all conserved    235NHKLMAMEQGKSLPSAT
Ptroglodytes  all conserved  ENSPTRG00000008406  235NHKLMAMEQGKSLPSAT
Mmulatta  not conserved  ENSMMUG00000029071  170NHKLMAVEQGKGLPSATEDAKE
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000031837  238NHKLVAPEPMKSLP
Ggallus  all conserved  ENSGALG00000003309  233PGRIVPRGHGKSSQSGA
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000056745  274NNRVSAKESMRNINTGAGAVEVRKE
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
283384DOMAINABM.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1161 / 1161
position (AA) of stopcodon in wt / mu AA sequence 387 / 387
position of stopcodon in wt / mu cDNA 1178 / 1178
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 18 / 18
chromosome 16
strand 1
last intron/exon boundary 1150
theoretical NMD boundary in CDS 1082
length of CDS 1161
coding sequence (CDS) position 704
cDNA position
(for ins/del: last normal base / first normal base)		 721
gDNA position
(for ins/del: last normal base / first normal base)		 25778
chromosomal position
(for ins/del: last normal base / first normal base)		 84028014
original gDNA sequence snippet GGCTATGGAACAAGGCAAGACCCTTCCATCTGGTGAGAGAA
altered gDNA sequence snippet GGCTATGGAACAAGGCAAGAGCCTTCCATCTGGTGAGAGAA
original cDNA sequence snippet GGCTATGGAACAAGGCAAGACCCTTCCATCTGCCACGGAGG
altered cDNA sequence snippet GGCTATGGAACAAGGCAAGAGCCTTCCATCTGCCACGGAGG
wildtype AA sequence MCERAARLCR AGAHRLLREP PQQGRALGGL LRWVGARMGE PRESLAPAAP ADPGPASPRG
GTAVILDIFR RADKNDDGKL SLEEFQLFFA DGVLNEKELE DLFHTIDSDN TNHVDTKELC
DYFVDHMGDY EDVLASLETL NHSVLKAMGY TKKVYEGGSN VDQFVTRFLL KETANQIQSL
LSSVESAVEA IEEQTSQLRQ NHIKPSHSAA QTWCGSPTPA SAPNHKLMAM EQGKTLPSAT
EDAKEEGLEA QISRLAELIG RLESKALWFD LQQRLSDEDG TNMHLQLVRQ EMAVCPEQLS
EFLDSLRQYL RGTTGVRNCF HITAVRLSDG FTFVIYEFWE TEEAWKRHLQ SPLCKAFRHV
KVDTLSQPEA LSRILVPAAW CTVGRD*
mutated AA sequence MCERAARLCR AGAHRLLREP PQQGRALGGL LRWVGARMGE PRESLAPAAP ADPGPASPRG
GTAVILDIFR RADKNDDGKL SLEEFQLFFA DGVLNEKELE DLFHTIDSDN TNHVDTKELC
DYFVDHMGDY EDVLASLETL NHSVLKAMGY TKKVYEGGSN VDQFVTRFLL KETANQIQSL
LSSVESAVEA IEEQTSQLRQ NHIKPSHSAA QTWCGSPTPA SAPNHKLMAM EQGKSLPSAT
EDAKEEGLEA QISRLAELIG RLESKALWFD LQQRLSDEDG TNMHLQLVRQ EMAVCPEQLS
EFLDSLRQYL RGTTGVRNCF HITAVRLSDG FTFVIYEFWE TEEAWKRHLQ SPLCKAFRHV
KVDTLSQPEA LSRILVPAAW CTVGRD*
speed 0.93 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