Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999987604 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:65269047G>AN/A show variant in all transcripts   IGV
HGNC symbol TBC1D30
Ensembl transcript ID ENST00000542120
Genbank transcript ID N/A
UniProt peptide Q9Y2I9
alteration type single base exchange
alteration region CDS
DNA changes c.1423G>A
cDNA.1668G>A
g.94459G>A
AA changes V475I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 475
frameshift no
known variant Reference ID: rs939875
databasehomozygous (A/A)heterozygousallele carriers
1000G368346714
ExAC135502637
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1870.008
-0.8350.002
(flanking)2.5640.189
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 increased94456wt: 0.5767 / mu: 0.6206 (marginal change - not scored)wt: GGGACACCGTAGGGC
mu: GGGACACCATAGGGC		 GACA|ccgt
distance from splice site 267
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      475RTKSHPGCGDTVGLIDEQNEASKT
mutated  all conserved    475RTKSHPGCGDTIGLIDE
Ptroglodytes  no homologue    
Mmulatta  all conserved  ENSMMUG00000003180  539RTKSHPGCGDTIGLIDE
Fcatus  all identical  ENSFCAG00000007198  475RTKSQLGCGDTVGLIEE
Mmusculus  all identical  ENSMUSG00000052302  590RTKSHLGCGDTVGLIEE
Ggallus  all conserved  ENSGALG00000009859  538RAKGQLGYGDTIGLIDE
Trubripes  not conserved  ENSTRUG00000012364  626DSEERKDDEDEVKR
Drerio  all conserved  ENSDARG00000075281  740RARAQLGFDDSLEAEDD
Dmelanogaster  not conserved  FBgn0261928  1301KEDSHESEAATNKK
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000030378  763RAKGELGHGDTIGLIDEQNEVPK
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1944 / 1944
position (AA) of stopcodon in wt / mu AA sequence 648 / 648
position of stopcodon in wt / mu cDNA 2189 / 2189
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 246 / 246
chromosome 12
strand 1
last intron/exon boundary 1402
theoretical NMD boundary in CDS 1106
length of CDS 1944
coding sequence (CDS) position 1423
cDNA position
(for ins/del: last normal base / first normal base)		 1668
gDNA position
(for ins/del: last normal base / first normal base)		 94459
chromosomal position
(for ins/del: last normal base / first normal base)		 65269047
original gDNA sequence snippet ATCCGGGCTGTGGGGACACCGTAGGGCTGATAGATGAGCAG
altered gDNA sequence snippet ATCCGGGCTGTGGGGACACCATAGGGCTGATAGATGAGCAG
original cDNA sequence snippet ATCCGGGCTGTGGGGACACCGTAGGGCTGATAGATGAGCAG
altered cDNA sequence snippet ATCCGGGCTGTGGGGACACCATAGGGCTGATAGATGAGCAG
wildtype AA sequence MRFTFNERSN PDDDSMGIQI VKDLHRTGCS SYCGQEAEQD RVVLKRVLLA YARWNKTVGY
CQGFNILAAL ILEVMEGNEG DALKIMIYLI DKVLPESYFV NNLRALSVDM AVFRDLLRMK
LPELSQHLDT LQRTANKESG GGYEPPLTNV FTMQWFLTLF ATCLPNQTVL KIWDSVFFEG
SEIILRVSLA IWAKLGEQIE CCETADEFYS TMGRLTQEML ENDLLQSHEL MQTVYSMAPF
PFPQLAELRE KYTYNITPFP ATVKPTSVSG RHSKARDSDE ENDPDDEDAV VNAVGCLGPF
SGFLAPELQK YQKQIKEPNE EQSLRSNNIA ELSPGAINSC RSEYHAAFNS MMMERMTTDI
NALKRQYSRI KKKQQQQVHQ VYIRADKGPV TSILPSQVNS SPVINHLLLG KKMKMTNRAA
KNAVIHIPGH TGGKISPVPY EDLKTKLNSP WRTHIRVHKK NMPRTKSHPG CGDTVGLIDE
QNEASKTNGL GAAEAFPSGC TATAGREGSS PEGSTRRTIE GQSPEPVFGD ADVDVSAVQA
KLGALELNQR DAAAETELRV HPPCQRHCPE PPSAPEENKA TSKAPQGSNS KTPIFSPFPS
VKPLRKSATA RNLGLYGPTE RTPTVHFPQM SRSFSKPGGG NSGTKKR*
mutated AA sequence MRFTFNERSN PDDDSMGIQI VKDLHRTGCS SYCGQEAEQD RVVLKRVLLA YARWNKTVGY
CQGFNILAAL ILEVMEGNEG DALKIMIYLI DKVLPESYFV NNLRALSVDM AVFRDLLRMK
LPELSQHLDT LQRTANKESG GGYEPPLTNV FTMQWFLTLF ATCLPNQTVL KIWDSVFFEG
SEIILRVSLA IWAKLGEQIE CCETADEFYS TMGRLTQEML ENDLLQSHEL MQTVYSMAPF
PFPQLAELRE KYTYNITPFP ATVKPTSVSG RHSKARDSDE ENDPDDEDAV VNAVGCLGPF
SGFLAPELQK YQKQIKEPNE EQSLRSNNIA ELSPGAINSC RSEYHAAFNS MMMERMTTDI
NALKRQYSRI KKKQQQQVHQ VYIRADKGPV TSILPSQVNS SPVINHLLLG KKMKMTNRAA
KNAVIHIPGH TGGKISPVPY EDLKTKLNSP WRTHIRVHKK NMPRTKSHPG CGDTIGLIDE
QNEASKTNGL GAAEAFPSGC TATAGREGSS PEGSTRRTIE GQSPEPVFGD ADVDVSAVQA
KLGALELNQR DAAAETELRV HPPCQRHCPE PPSAPEENKA TSKAPQGSNS KTPIFSPFPS
VKPLRKSATA RNLGLYGPTE RTPTVHFPQM SRSFSKPGGG NSGTKKR*
speed 0.59 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