Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999978273 (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) chr1:46086077C>TN/A show variant in all transcripts   IGV
HGNC symbol CCDC17
Ensembl transcript ID ENST00000343901
Genbank transcript ID N/A
UniProt peptide Q96LX7
alteration type single base exchange
alteration region CDS
DNA changes c.1643G>A
cDNA.1791G>A
g.3653G>A
AA changes S548N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 548
frameshift no
known variant Reference ID: rs3014246
databasehomozygous (T/T)heterozygousallele carriers
1000G121710042221
ExAC24817-168677950
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1690.06
-0.3340.065
(flanking)1.2250.477
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased3648wt: 0.73 / mu: 0.98wt: CTGGAAGCCAGCTTC
mu: CTGGAAGCCAACTTC		 GGAA|gcca
distance from splice site 29
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      548PPVSSTSSLEASFLTPAVGFADPP
mutated  all conserved    548STSSLEANFLTPAVGFADP
Ptroglodytes  all conserved  ENSPTRG00000000679  580PPVSSTSSLEANFLTPTVGFADP
Mmulatta  all conserved  ENSMMUG00000023432  401PLVSSTSSPEANFLTPTSGFADP
Fcatus  not conserved  ENSFCAG00000002862  303PAANPSPSLRRREDPPRL-----
Mmusculus  all identical  ENSMUSG00000034035  532PMVSS-SSVESSFFTHSSAFADP
Ggallus  no alignment  ENSGALG00000010272  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000090480  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
615615CONFLICTS -> F (in Ref. 3; AAH29888).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1773 / 1773
position (AA) of stopcodon in wt / mu AA sequence 591 / 591
position of stopcodon in wt / mu cDNA 1921 / 1921
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 149 / 149
chromosome 1
strand -1
last intron/exon boundary 1763
theoretical NMD boundary in CDS 1564
length of CDS 1773
coding sequence (CDS) position 1643
cDNA position
(for ins/del: last normal base / first normal base)		 1791
gDNA position
(for ins/del: last normal base / first normal base)		 3653
chromosomal position
(for ins/del: last normal base / first normal base)		 46086077
original gDNA sequence snippet CACATCTTCACTGGAAGCCAGCTTCCTCACCCCCGCAGTTG
altered gDNA sequence snippet CACATCTTCACTGGAAGCCAACTTCCTCACCCCCGCAGTTG
original cDNA sequence snippet CACATCTTCACTGGAAGCCAGCTTCCTCACCCCCGCAGTTG
altered cDNA sequence snippet CACATCTTCACTGGAAGCCAACTTCCTCACCCCCGCAGTTG
wildtype AA sequence MDSHSGEPAL LPCGTCDMVF RSSALLATHT QRFCIGHPTQ EMTFGAQASV ATEPQRAAVQ
WLRLSLQEMR PWITEVPRVF AGPWTRSEAR PQSPMSEAVG SPSERLRALF RTRARRVAEM
EAQSRALQLR GEELSRRLQV VACTRGGMSR LFGLEQEIRE LQAEAGRTRG ALEVLGARIQ
ELQAEPGNPL SSRREAELYS PVQKANPGTL AAEIRALREA YIRDGGRDPG VLGQIWQLQV
EASALELQRS QTRRGRAGAT SGELPVVEAE NRRLEAEILA LQMQRGRAPL GPQDLRLLGD
ASLQPKGRRD PPLLPPPVAP PLPPLPGFSE PQLPGTMTRN LGLDSHFLLP TSDMLGPAPY
DPGAGLVIFY DFLRGLEASW IWVQLRTGLA RDGRDTGRTT ALPPALCLPP PPAPGPMGNC
AILASRQPVP RLPPSSSVSL VCELQVWQGL AWARAPQPKA WVSLGLFDQD QRVLSGRWRL
PLRALPLDPS LSLGQLNGIP QAGQAELFLR LVNARDAAVQ TLAEINPASV HEYQYPPPVS
STSSLEASFL TPAVGFADPP PRTEEPLSGV KDRDEGLGPH HSSDLPPVSF *
mutated AA sequence MDSHSGEPAL LPCGTCDMVF RSSALLATHT QRFCIGHPTQ EMTFGAQASV ATEPQRAAVQ
WLRLSLQEMR PWITEVPRVF AGPWTRSEAR PQSPMSEAVG SPSERLRALF RTRARRVAEM
EAQSRALQLR GEELSRRLQV VACTRGGMSR LFGLEQEIRE LQAEAGRTRG ALEVLGARIQ
ELQAEPGNPL SSRREAELYS PVQKANPGTL AAEIRALREA YIRDGGRDPG VLGQIWQLQV
EASALELQRS QTRRGRAGAT SGELPVVEAE NRRLEAEILA LQMQRGRAPL GPQDLRLLGD
ASLQPKGRRD PPLLPPPVAP PLPPLPGFSE PQLPGTMTRN LGLDSHFLLP TSDMLGPAPY
DPGAGLVIFY DFLRGLEASW IWVQLRTGLA RDGRDTGRTT ALPPALCLPP PPAPGPMGNC
AILASRQPVP RLPPSSSVSL VCELQVWQGL AWARAPQPKA WVSLGLFDQD QRVLSGRWRL
PLRALPLDPS LSLGQLNGIP QAGQAELFLR LVNARDAAVQ TLAEINPASV HEYQYPPPVS
STSSLEANFL TPAVGFADPP PRTEEPLSGV KDRDEGLGPH HSSDLPPVSF *
speed 0.82 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