Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999218740879 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:19362768C>TN/A show variant in all transcripts   IGV
HGNC symbol CSGALNACT1
Ensembl transcript ID ENST00000332246
Genbank transcript ID NM_018371
UniProt peptide Q8TDX6
alteration type single base exchange
alteration region CDS
DNA changes c.578G>A
cDNA.1232G>A
g.252773G>A
AA changes S193N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 193
frameshift no
known variant Reference ID: rs7017776
databasehomozygous (T/T)heterozygousallele carriers
1000G14528762328
ExAC---
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0310.197
-0.1340.187
(flanking)0.4480.459
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 increased252777wt: 0.9920 / mu: 0.9939 (marginal change - not scored)wt: AGTCCTGCAGAGAAC
mu: AATCCTGCAGAGAAC		 TCCT|gcag
distance from splice site 57
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      193EAIESALETLNSPAENSPNHRPYT
mutated  all conserved    193EAIESALETLNNPAENSPNHRPY
Ptroglodytes  all identical  ENSPTRG00000020035  193EAIESALETLNSPAENSPNHRPY
Mmulatta  all conserved  ENSMMUG00000000130  193EAIESALETLNNPAENSPNHRPY
Fcatus  not conserved  ENSFCAG00000013402  193EAIESAVETLNGPADGSPSRRPY
Mmusculus  all identical  ENSMUSG00000036356  191EAIESALESLNSPVESSPHQRPY
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000014511  208EVLETALHSLNTLSSQQDGKNSAEKALTSKVY
Drerio  all conserved  ENSDARG00000040535  238EVVESALHALNAPNHGREKTKASKVY
Dmelanogaster  all identical  FBgn0033500  186AVNKALESLNRNHSARIRAKGAGSAAAYASDVIKY
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000004463  193TVDVALDALNSPEEGGISHRKVY
protein features
start (aa)end (aa)featuredetails 
36532TOPO_DOMLumenal (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1599 / 1599
position (AA) of stopcodon in wt / mu AA sequence 533 / 533
position of stopcodon in wt / mu cDNA 2253 / 2253
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 655 / 655
chromosome 8
strand -1
last intron/exon boundary 1964
theoretical NMD boundary in CDS 1259
length of CDS 1599
coding sequence (CDS) position 578
cDNA position
(for ins/del: last normal base / first normal base)		 1232
gDNA position
(for ins/del: last normal base / first normal base)		 252773
chromosomal position
(for ins/del: last normal base / first normal base)		 19362768
original gDNA sequence snippet AGCCTTGGAGACCCTGAACAGTCCTGCAGAGAACAGCCCCA
altered gDNA sequence snippet AGCCTTGGAGACCCTGAACAATCCTGCAGAGAACAGCCCCA
original cDNA sequence snippet AGCCTTGGAGACCCTGAACAGTCCTGCAGAGAACAGCCCCA
altered cDNA sequence snippet AGCCTTGGAGACCCTGAACAATCCTGCAGAGAACAGCCCCA
wildtype AA sequence MMMVRRGLLA WISRVVVLLV LLCCAISVLY MLACTPKGDE EQLALPRANS PTGKEGYQAV
LQEWEEQHRN YVSSLKRQIA QLKEELQERS EQLRNGQYQA SDAAGLGLDR SPPEKTQADL
LAFLHSQVDK AEVNAGVKLA TEYAAVPFDS FTLQKVYQLE TGLTRHPEEK PVRKDKRDEL
VEAIESALET LNSPAENSPN HRPYTASDFI EGIYRTERDK GTLYELTFKG DHKHEFKRLI
LFRPFGPIMK VKNEKLNMAN TLINVIVPLA KRVDKFRQFM QNFREMCIEQ DGRVHLTVVY
FGKEEINEVK GILENTSKAA NFRNFTFIQL NGEFSRGKGL DVGARFWKGS NVLLFFCDVD
IYFTSEFLNT CRLNTQPGKK VFYPVLFSQY NPGIIYGHHD AVPPLEQQLV IKKETGFWRD
FGFGMTCQYR SDFINIGGFD LDIKGWGGED VHLYRKYLHS NLIVVRTPVR GLFHLWHEKR
CMDELTPEQY KMCMQSKAMN EASHGQLGML VFRHEIEAHL RKQKQKTSSK KT*
mutated AA sequence MMMVRRGLLA WISRVVVLLV LLCCAISVLY MLACTPKGDE EQLALPRANS PTGKEGYQAV
LQEWEEQHRN YVSSLKRQIA QLKEELQERS EQLRNGQYQA SDAAGLGLDR SPPEKTQADL
LAFLHSQVDK AEVNAGVKLA TEYAAVPFDS FTLQKVYQLE TGLTRHPEEK PVRKDKRDEL
VEAIESALET LNNPAENSPN HRPYTASDFI EGIYRTERDK GTLYELTFKG DHKHEFKRLI
LFRPFGPIMK VKNEKLNMAN TLINVIVPLA KRVDKFRQFM QNFREMCIEQ DGRVHLTVVY
FGKEEINEVK GILENTSKAA NFRNFTFIQL NGEFSRGKGL DVGARFWKGS NVLLFFCDVD
IYFTSEFLNT CRLNTQPGKK VFYPVLFSQY NPGIIYGHHD AVPPLEQQLV IKKETGFWRD
FGFGMTCQYR SDFINIGGFD LDIKGWGGED VHLYRKYLHS NLIVVRTPVR GLFHLWHEKR
CMDELTPEQY KMCMQSKAMN EASHGQLGML VFRHEIEAHL RKQKQKTSSK KT*
speed 1.26 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