Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999979025368251 (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) chr2:85622059T>CN/A show variant in all transcripts   IGV
HGNC symbol CAPG
Ensembl transcript ID ENST00000542681
Genbank transcript ID N/A
UniProt peptide P40121
alteration type single base exchange
alteration region CDS
DNA changes c.941A>G
cDNA.990A>G
g.23497A>G
AA changes H314R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 314
frameshift no
known variant Reference ID: rs6886
databasehomozygous (C/C)heterozygousallele carriers
1000G90611182024
ExAC21660-1055311107
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.0490.62
0.9240.882
(flanking)2.8040.997
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained234910.39mu: GCCTCAGGGCCGTGA CTCA|gggc
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      314PNTQVEILPQGHESPIFKQFFKDW
mutated  not conserved    314PNTQVEILPQGRESPIFKQFFKD
Ptroglodytes  not conserved  ENSPTRG00000012132  335PNTQVEILPQGRESPIFKQFFKD
Mmulatta  not conserved  ENSMMUG00000002675  335LNTQVEILPQGRESPIFKQFFKD
Fcatus  not conserved  ENSFCAG00000003379  270PNTQVEILPQGRESPIFKQFFKD
Mmusculus  not conserved  ENSMUSG00000056737  336PNTQVEILPQGRESPIFKQFFKN
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000035560  336MRTQVEILPQGRESVLFKQFFKS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000023211  333PTTQVQVVSEGNESPLFRQFFRN
protein features
start (aa)end (aa)featuredetails 
303320HELIXlost
327332STRANDmight get lost (downstream of altered splice site)
337337MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
338340TURNmight get lost (downstream of altered splice site)
343345STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 984 / 984
position (AA) of stopcodon in wt / mu AA sequence 328 / 328
position of stopcodon in wt / mu cDNA 1033 / 1033
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 50 / 50
chromosome 2
strand -1
last intron/exon boundary 968
theoretical NMD boundary in CDS 868
length of CDS 984
coding sequence (CDS) position 941
cDNA position
(for ins/del: last normal base / first normal base)		 990
gDNA position
(for ins/del: last normal base / first normal base)		 23497
chromosomal position
(for ins/del: last normal base / first normal base)		 85622059
original gDNA sequence snippet GGAGATTCTGCCTCAGGGCCATGAGAGTCCCATCTTCAAGC
altered gDNA sequence snippet GGAGATTCTGCCTCAGGGCCGTGAGAGTCCCATCTTCAAGC
original cDNA sequence snippet GGAGATTCTGCCTCAGGGCCATGAGAGTCCCATCTTCAAGC
altered cDNA sequence snippet GGAGATTCTGCCTCAGGGCCGTGAGAGTCCCATCTTCAAGC
wildtype AA sequence MYTAIPQSGS PFPGSVQDPG LHVWRVEKLK PVPVAQENQG VFFSGDSYLV LHNGPEEVSH
LHLNTLLGER PVQHREVQGN ESDLFMSYFP RGLKYQEGGV ESAFHKTSTG APAAIKKLYQ
VKGKKNIRAT ERALNWDSFN TGDCFILDLG QNIFAWCGGK SNILERNKAR DLALAIRDSE
RQGKAQVEIV TDGEEPAEMI QVLGPKPALK EGNPEEDLTA DKANAQAAAL YKVSDATGQM
NLTKVADSSP FALELLISDD CFVLDNGLCG KIYIWKGRKA NEKERQAALQ VAEGFISRMQ
YAPNTQVEIL PQGHESPIFK QFFKDWK*
mutated AA sequence MYTAIPQSGS PFPGSVQDPG LHVWRVEKLK PVPVAQENQG VFFSGDSYLV LHNGPEEVSH
LHLNTLLGER PVQHREVQGN ESDLFMSYFP RGLKYQEGGV ESAFHKTSTG APAAIKKLYQ
VKGKKNIRAT ERALNWDSFN TGDCFILDLG QNIFAWCGGK SNILERNKAR DLALAIRDSE
RQGKAQVEIV TDGEEPAEMI QVLGPKPALK EGNPEEDLTA DKANAQAAAL YKVSDATGQM
NLTKVADSSP FALELLISDD CFVLDNGLCG KIYIWKGRKA NEKERQAALQ VAEGFISRMQ
YAPNTQVEIL PQGRESPIFK QFFKDWK*
speed 0.11 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