Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999994356 (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) chr13:101287340C>TN/A show variant in all transcripts   IGV
HGNC symbol TMTC4
Ensembl transcript ID ENST00000328767
Genbank transcript ID N/A
UniProt peptide Q5T4D3
alteration type single base exchange
alteration region CDS
DNA changes c.922G>A
cDNA.1007G>A
g.40008G>A
AA changes V308I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 308
frameshift no
known variant Reference ID: rs946837
databasehomozygous (T/T)heterozygousallele carriers
1000G43310841517
ExAC76751741725092
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0280.008
0.7640.007
(flanking)-0.9470.004
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased40011wt: 0.21 / mu: 0.36wt: TCCTCTACCTCCCCAGCGTTGGGTACTGTGTGCTGCTGACT
mu: TCCTCTACCTCCCCAGCATTGGGTACTGTGTGCTGCTGACT		 gttg|GGTA
Acc marginally increased40006wt: 0.4101 / mu: 0.4186 (marginal change - not scored)wt: GCGTGTCCTCTACCTCCCCAGCGTTGGGTACTGTGTGCTGC
mu: GCGTGTCCTCTACCTCCCCAGCATTGGGTACTGTGTGCTGC		 ccag|CGTT
Acc marginally increased40009wt: 0.3237 / mu: 0.3243 (marginal change - not scored)wt: TGTCCTCTACCTCCCCAGCGTTGGGTACTGTGTGCTGCTGA
mu: TGTCCTCTACCTCCCCAGCATTGGGTACTGTGTGCTGCTGA		 gcgt|TGGG
Donor marginally increased40005wt: 0.8341 / mu: 0.8538 (marginal change - not scored)wt: TCCCCAGCGTTGGGT
mu: TCCCCAGCATTGGGT		 CCCA|gcgt
distance from splice site 63
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      308VVAERVLYLPSVGYCVLLTFGFGA
mutated  all conserved    308RVLYLPSIGYCVLLTFGFG
Ptroglodytes  all identical  ENSPTRG00000006004  402VVAERVLYLPSVGYCVLLTFGFG
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000007231  437VVAERVLYLPSAGYCMLLT-GFG
Mmusculus  not conserved  ENSMUSG00000041594  419VVAERVLYLPSAGYCVLLTFGFG
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000011988  419VIAERVLYLSSAGYCLLLAFAFGH
Drerio  not conserved  ENSDARG00000020447  416VIAERVLYLSSAGYCLILAYAVG
Dmelanogaster  all conserved  FBgn0038324  378VIAERTLYVPSIGFCLLSIYGFLYWYD
Celegans  not conserved  F38B6.6  372SIAERVLYLPSAGFCLLCAIIFK
Xtropicalis  all identical  ENSXETG00000020677  417VVAERVLYLPSVGYCVLFTYGYS
protein features
start (aa)end (aa)featuredetails 
318337TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
355375TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
383403TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
413433TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
441441CONFLICTL -> P (in Ref. 1; BAB55179).might get lost (downstream of altered splice site)
441461TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
448481REPEATTPR 1.might get lost (downstream of altered splice site)
482515REPEATTPR 2.might get lost (downstream of altered splice site)
504504CONFLICTY -> N (in Ref. 1; BAB55179).might get lost (downstream of altered splice site)
517549REPEATTPR 3.might get lost (downstream of altered splice site)
550583REPEATTPR 4.might get lost (downstream of altered splice site)
584617REPEATTPR 5.might get lost (downstream of altered splice site)
619651REPEATTPR 6.might get lost (downstream of altered splice site)
652685REPEATTPR 7.might get lost (downstream of altered splice site)
667667CONFLICTK -> E (in Ref. 1; BAB55179).might get lost (downstream of altered splice site)
686719REPEATTPR 8.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1893 / 1893
position (AA) of stopcodon in wt / mu AA sequence 631 / 631
position of stopcodon in wt / mu cDNA 1978 / 1978
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 86 / 86
chromosome 13
strand -1
last intron/exon boundary 1830
theoretical NMD boundary in CDS 1694
length of CDS 1893
coding sequence (CDS) position 922
cDNA position
(for ins/del: last normal base / first normal base)		 1007
gDNA position
(for ins/del: last normal base / first normal base)		 40008
chromosomal position
(for ins/del: last normal base / first normal base)		 101287340
original gDNA sequence snippet GTGTCCTCTACCTCCCCAGCGTTGGGTACTGTGTGCTGCTG
altered gDNA sequence snippet GTGTCCTCTACCTCCCCAGCATTGGGTACTGTGTGCTGCTG
original cDNA sequence snippet GTGTCCTCTACCTCCCCAGCGTTGGGTACTGTGTGCTGCTG
altered cDNA sequence snippet GTGTCCTCTACCTCCCCAGCATTGGGTACTGTGTGCTGCTG
wildtype AA sequence MAVLDTDLDH ILPSSVLPPF WAKLVVGSVA IVCFARSYDG DFVFDDSEAI VNNKVAGVVG
RADLLCALFF LLSFLGYCKA FRESNKEGAH SSTFWVLLSI FLGAVAMLCK EQGITVLGLN
AVFDILVIGK FNVLEIVQKV LHKDKSLENL GMLRNGGLLF RMTLLTSGGA GMLYVRWRIM
GTGPPAFTEV DNPASFADSM LVRAVNYNYY YSLNAWLLLC PWWLCFDWSM GCIPLIKSIS
DWRVIALAAL WFCLIGLICQ ALCSEDGHKR RILTLGLGFL VIPFLPASNL FFRVGFVVAE
RVLYLPSVGY CVLLTFGFGA LSKHTKKKKL IAAVVLGILF INTLRCVLRS GEWRSEEQLF
RSALSVCPLN AKVHYNIGKN LADKGNQTAA IRYYREAVRL NPKYVHAMNN LGNILKERNE
LQEAEELLSL AVQIQPDFAA AWMNLGIVQN SLKRFEAAEQ SYRTAIKHRR KYPDCYYNLG
RLYADLNRHV DALNAWRNAT VLKPEHSLAW NNMIILLDNT GNLAQAEAVG REALELIPND
HSLMFSLANV LGKSQKYKES EALFLKAIKA NPNAASYHGN LAVLYHRWGH LDLAKKHYEI
SLQLDPTASG TKENYGLLRR KLELMQKKAV *
mutated AA sequence MAVLDTDLDH ILPSSVLPPF WAKLVVGSVA IVCFARSYDG DFVFDDSEAI VNNKVAGVVG
RADLLCALFF LLSFLGYCKA FRESNKEGAH SSTFWVLLSI FLGAVAMLCK EQGITVLGLN
AVFDILVIGK FNVLEIVQKV LHKDKSLENL GMLRNGGLLF RMTLLTSGGA GMLYVRWRIM
GTGPPAFTEV DNPASFADSM LVRAVNYNYY YSLNAWLLLC PWWLCFDWSM GCIPLIKSIS
DWRVIALAAL WFCLIGLICQ ALCSEDGHKR RILTLGLGFL VIPFLPASNL FFRVGFVVAE
RVLYLPSIGY CVLLTFGFGA LSKHTKKKKL IAAVVLGILF INTLRCVLRS GEWRSEEQLF
RSALSVCPLN AKVHYNIGKN LADKGNQTAA IRYYREAVRL NPKYVHAMNN LGNILKERNE
LQEAEELLSL AVQIQPDFAA AWMNLGIVQN SLKRFEAAEQ SYRTAIKHRR KYPDCYYNLG
RLYADLNRHV DALNAWRNAT VLKPEHSLAW NNMIILLDNT GNLAQAEAVG REALELIPND
HSLMFSLANV LGKSQKYKES EALFLKAIKA NPNAASYHGN LAVLYHRWGH LDLAKKHYEI
SLQLDPTASG TKENYGLLRR KLELMQKKAV *
speed 0.19 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