Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999996 (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) chr4:41015899C>TN/A show variant in all transcripts   IGV
HGNC symbol APBB2
Ensembl transcript ID ENST00000506352
Genbank transcript ID N/A
UniProt peptide Q92870
alteration type single base exchange
alteration region CDS
DNA changes c.536G>A
cDNA.1163G>A
g.202833G>A
AA changes R179Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 179
frameshift no
known variant Reference ID: rs4861358
databasehomozygous (T/T)heterozygousallele carriers
1000G12678422109
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.2690
-0.110
(flanking)-0.1880
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased202829wt: 0.84 / mu: 0.99wt: AGCAGAACCGAGGCA
mu: AGCAGAACCAAGGCA		 CAGA|accg
Donor marginally increased202824wt: 0.9567 / mu: 0.9689 (marginal change - not scored)wt: ACTAGAGCAGAACCG
mu: ACTAGAGCAGAACCA		 TAGA|gcag
Donor marginally increased202830wt: 0.5586 / mu: 0.6046 (marginal change - not scored)wt: GCAGAACCGAGGCAA
mu: GCAGAACCAAGGCAA		 AGAA|ccga
Donor marginally increased202834wt: 0.9940 / mu: 0.9956 (marginal change - not scored)wt: AACCGAGGCAATCAC
mu: AACCAAGGCAATCAC		 CCGA|ggca
distance from splice site 300
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      179LETSARELEQNRGNHHGTAEEKSQ
mutated  all conserved    179LETSARELEQNQGNHHGTAEEKS
Ptroglodytes  all identical  ENSPTRG00000016008  179LETSARELEQNRGNHHGTAEEKS
Mmulatta  all conserved  ENSMMUG00000012563  174LETSARELEQNQGNRHGI
Fcatus  not conserved  ENSFCAG00000012843  57LETSTREFEQNLGNE
Mmusculus  not conserved  ENSMUSG00000029207  179LETSARELGQNLGPCQGVGEEKA
Ggallus  not conserved  ENSGALG00000014262  105LETSARELEQS----FAVMEDKS
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000061880  181EEVNKLIEDDTNEEDHVENC
Dmelanogaster  no homologue    
Celegans  no alignment  Y54F10AM.2  n/a
Xtropicalis  not conserved  ENSXETG00000021093  179NG--HVVEEEDS
protein features
start (aa)end (aa)featuredetails 
179179CONFLICTR -> Q (in Ref. 3; AAH27946).lost
290322DOMAINWW.might get lost (downstream of altered splice site)
336336MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
339339MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
343343MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
413578DOMAINPID 1.might get lost (downstream of altered splice site)
490490CONFLICTL -> W (in Ref. 4; AAC50805).might get lost (downstream of altered splice site)
584736DOMAINPID 2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2214 / 2214
position (AA) of stopcodon in wt / mu AA sequence 738 / 738
position of stopcodon in wt / mu cDNA 2841 / 2841
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 628 / 628
chromosome 4
strand -1
last intron/exon boundary 2674
theoretical NMD boundary in CDS 1996
length of CDS 2214
coding sequence (CDS) position 536
cDNA position
(for ins/del: last normal base / first normal base)		 1163
gDNA position
(for ins/del: last normal base / first normal base)		 202833
chromosomal position
(for ins/del: last normal base / first normal base)		 41015899
original gDNA sequence snippet CAGAGAACTAGAGCAGAACCGAGGCAATCACCATGGGACTG
altered gDNA sequence snippet CAGAGAACTAGAGCAGAACCAAGGCAATCACCATGGGACTG
original cDNA sequence snippet CAGAGAACTAGAGCAGAACCGAGGCAATCACCATGGGACTG
altered cDNA sequence snippet CAGAGAACTAGAGCAGAACCAAGGCAATCACCATGGGACTG
wildtype AA sequence MSEVLPADSG VDTLAVFMAS SGTTDVTNRN SPATPPNTLN LRSSHNELLN AEIKHTETKN
STPPKCRKKY ALTNIQAAMG LSDPAAQPLL GNGSANIKLV KNGENQLRKA AEQGQQDPNK
NLSPTAVINI TSEKLEGKEP HPQDSSSCEI LPSQPRRTKS FLNYYADLET SARELEQNRG
NHHGTAEEKS QPVQGQASTI IGNGDLLLQK PNRPQSSPED GQVATVSSSP ETKKDHPKTG
AKTDCALHRI QNLAPSDEES SWTTLSQDSA SPSSPDETDI WSDHSFQTDP DLPPGWKRVS
DIAGTYYWHI PTGTTQWERP VSIPADLQGS RKGSLSSVTP SPTPENEDLH AATVNPDPSL
KEFEGATLRY ASLKLRNAPH PDDDDSCSIN SDPEAKCFAV RSLGWVEMAE EDLAPGKSSV
AVNNCIRQLS YCKNDIRDTV GIWGEGKDMY LILENDMLSL VDPMDRSVLH SQPIVSIRVW
GVGRDNGRDF AYVARDKDTR ILKCHVFRCD TPAKAIATSL HEICSKIMAE RKNAKALACS
SLQERANVNL DVPLQVDFPT PKTELVQKFH VQYLGMLPVD KPVGMDILNS AIENLMTSSN
KEDWLSVNMN VADATVTVIS EKNEEEVLVE CRVRFLSFMG VGKDVHTFAF IMDTGNQRFE
CHVFWCEPNA GNVSEAVQAA CMLRYQKCLV ARPPSQKVRP PPPPADSVTR RVTTNVKRGV
LSLIDTLKQK RPVTEMP*
mutated AA sequence MSEVLPADSG VDTLAVFMAS SGTTDVTNRN SPATPPNTLN LRSSHNELLN AEIKHTETKN
STPPKCRKKY ALTNIQAAMG LSDPAAQPLL GNGSANIKLV KNGENQLRKA AEQGQQDPNK
NLSPTAVINI TSEKLEGKEP HPQDSSSCEI LPSQPRRTKS FLNYYADLET SARELEQNQG
NHHGTAEEKS QPVQGQASTI IGNGDLLLQK PNRPQSSPED GQVATVSSSP ETKKDHPKTG
AKTDCALHRI QNLAPSDEES SWTTLSQDSA SPSSPDETDI WSDHSFQTDP DLPPGWKRVS
DIAGTYYWHI PTGTTQWERP VSIPADLQGS RKGSLSSVTP SPTPENEDLH AATVNPDPSL
KEFEGATLRY ASLKLRNAPH PDDDDSCSIN SDPEAKCFAV RSLGWVEMAE EDLAPGKSSV
AVNNCIRQLS YCKNDIRDTV GIWGEGKDMY LILENDMLSL VDPMDRSVLH SQPIVSIRVW
GVGRDNGRDF AYVARDKDTR ILKCHVFRCD TPAKAIATSL HEICSKIMAE RKNAKALACS
SLQERANVNL DVPLQVDFPT PKTELVQKFH VQYLGMLPVD KPVGMDILNS AIENLMTSSN
KEDWLSVNMN VADATVTVIS EKNEEEVLVE CRVRFLSFMG VGKDVHTFAF IMDTGNQRFE
CHVFWCEPNA GNVSEAVQAA CMLRYQKCLV ARPPSQKVRP PPPPADSVTR RVTTNVKRGV
LSLIDTLKQK RPVTEMP*
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