Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999997144 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:67212423G>AN/A show variant in all transcripts   IGV
HGNC symbol ABCA10
Ensembl transcript ID ENST00000432313
Genbank transcript ID N/A
UniProt peptide Q8WWZ4
alteration type single base exchange
alteration region CDS
DNA changes c.607C>T
cDNA.1486C>T
g.28565C>T
AA changes P203S Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 203
frameshift no
known variant Reference ID: rs9909216
databasehomozygous (A/A)heterozygousallele carriers
1000G90111062007
ExAC24065-153638702
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9280.018
1.1840.017
(flanking)-0.1880.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased28563wt: 0.2295 / mu: 0.2319 (marginal change - not scored)wt: ATCAATCCCAATTGT
mu: ATCAATCTCAATTGT		 CAAT|ccca
distance from splice site 66
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      203SIFMALVITSIPIVFHTGFMVIFT
mutated  not conserved    203SIFMALVITSISIVFHTGFMVIF
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000018604  n/a
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  not conserved  ENSGALG00000021399  291SCPLTALVMNE---TFHNSSFSAIL
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0031170  340VKINWSEDVAVLTHANFTALV
Celegans  not conserved  Y39D8C.1  386IVLTILMHFVALKSDMTLMF
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
185205TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1359 / 1359
position (AA) of stopcodon in wt / mu AA sequence 453 / 453
position of stopcodon in wt / mu cDNA 2238 / 2238
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 880 / 880
chromosome 17
strand -1
last intron/exon boundary 2114
theoretical NMD boundary in CDS 1184
length of CDS 1359
coding sequence (CDS) position 607
cDNA position
(for ins/del: last normal base / first normal base)		 1486
gDNA position
(for ins/del: last normal base / first normal base)		 28565
chromosomal position
(for ins/del: last normal base / first normal base)		 67212423
original gDNA sequence snippet CTCTGGTCATAACATCAATCCCAATTGTATTTCATACTGGC
altered gDNA sequence snippet CTCTGGTCATAACATCAATCTCAATTGTATTTCATACTGGC
original cDNA sequence snippet CTCTGGTCATAACATCAATCCCAATTGTATTTCATACTGGC
altered cDNA sequence snippet CTCTGGTCATAACATCAATCTCAATTGTATTTCATACTGGC
wildtype AA sequence MNKMALASFM KGRTVIGTPD EETMDIELPK KYHEMVGVIF SDTFSYRLKF NWGYRIPVIK
EHSEYTEHCW AMHGEIFCYL AKYWLKGFVA FQAAINAAII EVTTNHSVME ELTSVIGINM
KIPPFISKGE IMNEWFHFTC LVSFSSFIYF ASLNVARERG KFKKLMTVMG LRESAFWLSW
GLTYICFIFI MSIFMALVIT SIPIVFHTGF MVIFTLYSLY GLSLIALAFL MSVLIRKPML
AGLAGFLFTV FWGCLGFTVL YRQLPLSLGW VLSLLSPFAF TAGMAQITHL DNYLSGVIFP
DPSGDSYKMI ATFFILAFDT LFYLIFTLYF ERVLPDKDGH GDSPLFFLKS SFWSKHQNTH
HEIFENEINP EHSSDDSFEP VSPEFHGKEA IRIRNVIKEY NGKTGKVEAL QGSEERLCPA
AHRLRCGERL CPAAHHLGCE ERPCPAATPS GN*
mutated AA sequence MNKMALASFM KGRTVIGTPD EETMDIELPK KYHEMVGVIF SDTFSYRLKF NWGYRIPVIK
EHSEYTEHCW AMHGEIFCYL AKYWLKGFVA FQAAINAAII EVTTNHSVME ELTSVIGINM
KIPPFISKGE IMNEWFHFTC LVSFSSFIYF ASLNVARERG KFKKLMTVMG LRESAFWLSW
GLTYICFIFI MSIFMALVIT SISIVFHTGF MVIFTLYSLY GLSLIALAFL MSVLIRKPML
AGLAGFLFTV FWGCLGFTVL YRQLPLSLGW VLSLLSPFAF TAGMAQITHL DNYLSGVIFP
DPSGDSYKMI ATFFILAFDT LFYLIFTLYF ERVLPDKDGH GDSPLFFLKS SFWSKHQNTH
HEIFENEINP EHSSDDSFEP VSPEFHGKEA IRIRNVIKEY NGKTGKVEAL QGSEERLCPA
AHRLRCGERL CPAAHHLGCE ERPCPAATPS GN*
speed 1.07 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