Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999655837359 (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 ENST00000263867
Genbank transcript ID NM_001256139
UniProt peptide P40121
alteration type single base exchange
alteration region CDS
DNA changes c.1004A>G
cDNA.1254A>G
g.23497A>G
AA changes H335R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 335
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      335PNTQVEILPQGHESPIFKQFFKDW
mutated  not conserved    335PNTQVEILPQGRESPIFKQFFKD
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 
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 1047 / 1047
position (AA) of stopcodon in wt / mu AA sequence 349 / 349
position of stopcodon in wt / mu cDNA 1297 / 1297
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 251 / 251
chromosome 2
strand -1
last intron/exon boundary 1232
theoretical NMD boundary in CDS 931
length of CDS 1047
coding sequence (CDS) position 1004
cDNA position
(for ins/del: last normal base / first normal base)		 1254
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
LHLWIGQQSS RDEQGACAVL AVHLNTLLGE RPVQHREVQG NESDLFMSYF PRGLKYQEGG
VESAFHKTST GAPAAIKKLY QVKGKKNIRA TERALNWDSF NTGDCFILDL GQNIFAWCGG
KSNILERNKA RDLALAIRDS ERQGKAQVEI VTDGEEPAEM IQVLGPKPAL KEGNPEEDLT
ADKANAQAAA LYKVSDATGQ MNLTKVADSS PFALELLISD DCFVLDNGLC GKIYIWKGRK
ANEKERQAAL QVAEGFISRM QYAPNTQVEI LPQGHESPIF KQFFKDWK*
mutated AA sequence MYTAIPQSGS PFPGSVQDPG LHVWRVEKLK PVPVAQENQG VFFSGDSYLV LHNGPEEVSH
LHLWIGQQSS RDEQGACAVL AVHLNTLLGE RPVQHREVQG NESDLFMSYF PRGLKYQEGG
VESAFHKTST GAPAAIKKLY QVKGKKNIRA TERALNWDSF NTGDCFILDL GQNIFAWCGG
KSNILERNKA RDLALAIRDS ERQGKAQVEI VTDGEEPAEM IQVLGPKPAL KEGNPEEDLT
ADKANAQAAA LYKVSDATGQ MNLTKVADSS PFALELLISD DCFVLDNGLC GKIYIWKGRK
ANEKERQAAL QVAEGFISRM QYAPNTQVEI LPQGRESPIF KQFFKDWK*
speed 1.12 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