Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.9999763771291 (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) chr11:62951221C>GN/A show variant in all transcripts   IGV
HGNC symbol SLC22A25
Ensembl transcript ID ENST00000306494
Genbank transcript ID NM_199352
UniProt peptide Q6T423
alteration type single base exchange
alteration region CDS
DNA changes c.899G>C
cDNA.899G>C
g.45904G>C
AA changes R300T Score: 71 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 300
frameshift no
known variant Reference ID: rs11231397
databasehomozygous (G/G)heterozygousallele carriers
1000G45911871646
ExAC105211172522246
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4350.763
-0.7830.693
(flanking)1.4950.716
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased45908wt: 0.68 / mu: 0.83wt: AGAAAAGCTGCACAC
mu: ACAAAAGCTGCACAC		 AAAA|gctg
Donor marginally increased45895wt: 0.9228 / mu: 0.9770 (marginal change - not scored)wt: CTTAAAGGAACTTAG
mu: CTTAAAGGAACTTAC		 TAAA|ggaa
distance from splice site 56
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      300NNKPEEGLKELRKAAHRNGMKNAE
mutated  not conserved    300NNKPEEGLKELTKAAHRNGMKNA
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000000413  306SDKALKNLHRVARINGKPIN
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
281349TOPO_DOMCytoplasmic (Potential).lost
350370TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
371377TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
378398TRANSMEMHelical; Name=8; (Potential).might get lost (downstream of altered splice site)
399406TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
407427TRANSMEMHelical; Name=9; (Potential).might get lost (downstream of altered splice site)
428434TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
435455TRANSMEMHelical; Name=10; (Potential).might get lost (downstream of altered splice site)
456470TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
471491TRANSMEMHelical; Name=11; (Potential).might get lost (downstream of altered splice site)
492494TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
495515TRANSMEMHelical; Name=12; (Potential).might get lost (downstream of altered splice site)
516547TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1644 / 1644
position (AA) of stopcodon in wt / mu AA sequence 548 / 548
position of stopcodon in wt / mu cDNA 1644 / 1644
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 11
strand -1
last intron/exon boundary 1395
theoretical NMD boundary in CDS 1344
length of CDS 1644
coding sequence (CDS) position 899
cDNA position
(for ins/del: last normal base / first normal base)		 899
gDNA position
(for ins/del: last normal base / first normal base)		 45904
chromosomal position
(for ins/del: last normal base / first normal base)		 62951221
original gDNA sequence snippet AGAGGGCTTAAAGGAACTTAGAAAAGCTGCACACAGGAATG
altered gDNA sequence snippet AGAGGGCTTAAAGGAACTTACAAAAGCTGCACACAGGAATG
original cDNA sequence snippet AGAGGGCTTAAAGGAACTTAGAAAAGCTGCACACAGGAATG
altered cDNA sequence snippet AGAGGGCTTAAAGGAACTTACAAAAGCTGCACACAGGAATG
wildtype AA sequence MAFQDLLDQV GGLGRFQILQ MVFLIMFNVI VYHQTQLENF AAFILDHRCW VHILDNDTIP
DNDPGTLSQD ALLRISIPFD SNLRPEKCRR FVHPQWKLIH LNGTFPNTSE PDTEPCVDGW
VYDQSSFPST IVTKWDLVCE SQPLNSVAKF LFMAGMMVGG NLYGHLSDRF GRKFVLRWSY
LQLAIVGTCA AFAPTILVYC SLRFLAGAAT FSIIVNTVLL IVEWITHQFC AMALTLTLCA
ASIGHITLGS LAFVIRDQCI LQLVMSAPCF VFFLFSRWLA ESARWLIINN KPEEGLKELR
KAAHRNGMKN AEDILTMEVL KSTMKQELEA AQKKHSLCEL LRIPNICKRI CFLSFVRFAS
TIPFWGLTLH LQHLGNNVFL LQTLFGAVTL LANCVAPWAL NHMSRRLSQM LLMFLLATCL
LAIIFVPQEM QTLRVVLATL GVGAASLGIT CSTAQENELI PSIIRGRATG ITGNFANIGG
ALASLMMILS IYSRPLPWII YGVFAILSGL VVLLLPETRN QPLLDSIQDV ENEGVNSLAA
PQRSSVL*
mutated AA sequence MAFQDLLDQV GGLGRFQILQ MVFLIMFNVI VYHQTQLENF AAFILDHRCW VHILDNDTIP
DNDPGTLSQD ALLRISIPFD SNLRPEKCRR FVHPQWKLIH LNGTFPNTSE PDTEPCVDGW
VYDQSSFPST IVTKWDLVCE SQPLNSVAKF LFMAGMMVGG NLYGHLSDRF GRKFVLRWSY
LQLAIVGTCA AFAPTILVYC SLRFLAGAAT FSIIVNTVLL IVEWITHQFC AMALTLTLCA
ASIGHITLGS LAFVIRDQCI LQLVMSAPCF VFFLFSRWLA ESARWLIINN KPEEGLKELT
KAAHRNGMKN AEDILTMEVL KSTMKQELEA AQKKHSLCEL LRIPNICKRI CFLSFVRFAS
TIPFWGLTLH LQHLGNNVFL LQTLFGAVTL LANCVAPWAL NHMSRRLSQM LLMFLLATCL
LAIIFVPQEM QTLRVVLATL GVGAASLGIT CSTAQENELI PSIIRGRATG ITGNFANIGG
ALASLMMILS IYSRPLPWII YGVFAILSGL VVLLLPETRN QPLLDSIQDV ENEGVNSLAA
PQRSSVL*
speed 0.40 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