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 ENST00000229088
Genbank transcript ID N/A
UniProt peptide Q9Y2I9
alteration type single base exchange
alteration region CDS
DNA changes c.2254G>A
cDNA.2254G>A
g.94459G>A
AA changes V752I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 752
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      752RTKSHPGCGDTVGLIDEQNEASKT
mutated  all conserved    752RTKSHPGCGDTIGLIDEQNEASK
Ptroglodytes  no homologue    
Mmulatta  all conserved  ENSMMUG00000003180  539RTKSHPGCGDTIGLI
Fcatus  all identical  ENSFCAG00000007198  475RTKSQLGCGDTVGLIEE
Mmusculus  all identical  ENSMUSG00000052302  590RTKSHLGCGDTVGLIEEQSEGCK
Ggallus  all conserved  ENSGALG00000009859  538RAKGQLGYGDTIGLI
Trubripes  not conserved  ENSTRUG00000012364  626RARAQLGFGDSEERKDDEDEVKR
Drerio  all conserved  ENSDARG00000075281  740RARAQLGFDDSLEAEDDQTDESK
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 2775 / 2775
position (AA) of stopcodon in wt / mu AA sequence 925 / 925
position of stopcodon in wt / mu cDNA 2775 / 2775
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 1 / 1
chromosome 12
strand 1
last intron/exon boundary 1988
theoretical NMD boundary in CDS 1937
length of CDS 2775
coding sequence (CDS) position 2254
cDNA position
(for ins/del: last normal base / first normal base)		 2254
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 MDVLPTGGGR PGLRTELEFR GGGGEARLES QEEETIPAAP PAPRLRGAAE RPRRSRDTWD
GDEDTEPGEA CGGRTSRTAS LVSGLLNELY SCTEEEEAAG GGRGAEGRRR RRDSLDSSTE
ASGSDVVLGG RSGAGDSRVL QELQERPSQR HQMLYLRQKD ANELKTILRE LKYRIGIQSA
KLLRHLKQKD RLLHKVQRNC DIVTACLQAV SQKRRVDTKL KFTLEPSLGQ NGFQQWYDAL
KAVARLSTGI PKEWRRKVWL TLADHYLHSI AIDWDKTMRF TFNERSNPDD DSMGIQIVKD
LHRTGCSSYC GQEAEQDRVV LKRVLLAYAR WNKTVGYCQG FNILAALILE VMEGNEGDAL
KIMIYLIDKV LPESYFVNNL RALSVDMAVF RDLLRMKLPE LSQHLDTLQR TANKESGGGY
EPPLTNVFTM QWFLTLFATC LPNQTVLKIW DSVFFEGSEI ILRVSLAIWA KLGEQIECCE
TADEFYSTMG RLTQEMLEND LLQSHELMQT VYSMAPFPFP QLAELREKYT YNITPFPATV
KPTSVSGRHS KARDSDEEND PDDEDAVVNA VGCLGPFSGF LAPELQKYQK QIKEPNEEQS
LRSNNIAELS PGAINSCRSE YHAAFNSMMM ERMTTDINAL KRQYSRIKKK QQQQVHQVYI
RADKGPVTSI LPSQVNSSPV INHLLLGKKM KMTNRAAKNA VIHIPGHTGG KISPVPYEDL
KTKLNSPWRT HIRVHKKNMP RTKSHPGCGD TVGLIDEQNE ASKTNGLGAA EAFPSGCTAT
AGREGSSPEG STRRTIEGQS PEPVFGDADV DVSAVQAKLG ALELNQRDAA AETELRVHPP
CQRHCPEPPS APEENKATSK APQGSNSKTP IFSPFPSVKP LRKSATARNL GLYGPTERTP
TVHFPQMSRS FSKPGGGNSG TKKR*
mutated AA sequence MDVLPTGGGR PGLRTELEFR GGGGEARLES QEEETIPAAP PAPRLRGAAE RPRRSRDTWD
GDEDTEPGEA CGGRTSRTAS LVSGLLNELY SCTEEEEAAG GGRGAEGRRR RRDSLDSSTE
ASGSDVVLGG RSGAGDSRVL QELQERPSQR HQMLYLRQKD ANELKTILRE LKYRIGIQSA
KLLRHLKQKD RLLHKVQRNC DIVTACLQAV SQKRRVDTKL KFTLEPSLGQ NGFQQWYDAL
KAVARLSTGI PKEWRRKVWL TLADHYLHSI AIDWDKTMRF TFNERSNPDD DSMGIQIVKD
LHRTGCSSYC GQEAEQDRVV LKRVLLAYAR WNKTVGYCQG FNILAALILE VMEGNEGDAL
KIMIYLIDKV LPESYFVNNL RALSVDMAVF RDLLRMKLPE LSQHLDTLQR TANKESGGGY
EPPLTNVFTM QWFLTLFATC LPNQTVLKIW DSVFFEGSEI ILRVSLAIWA KLGEQIECCE
TADEFYSTMG RLTQEMLEND LLQSHELMQT VYSMAPFPFP QLAELREKYT YNITPFPATV
KPTSVSGRHS KARDSDEEND PDDEDAVVNA VGCLGPFSGF LAPELQKYQK QIKEPNEEQS
LRSNNIAELS PGAINSCRSE YHAAFNSMMM ERMTTDINAL KRQYSRIKKK QQQQVHQVYI
RADKGPVTSI LPSQVNSSPV INHLLLGKKM KMTNRAAKNA VIHIPGHTGG KISPVPYEDL
KTKLNSPWRT HIRVHKKNMP RTKSHPGCGD TIGLIDEQNE ASKTNGLGAA EAFPSGCTAT
AGREGSSPEG STRRTIEGQS PEPVFGDADV DVSAVQAKLG ALELNQRDAA AETELRVHPP
CQRHCPEPPS APEENKATSK APQGSNSKTP IFSPFPSVKP LRKSATARNL GLYGPTERTP
TVHFPQMSRS FSKPGGGNSG TKKR*
speed 0.64 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