Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 9.93104728496714e-05 (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) chr20:1426393C>TN/A show variant in all transcripts   IGV
HGNC symbol NSFL1C
Ensembl transcript ID ENST00000381658
Genbank transcript ID N/A
UniProt peptide Q9UNZ2
alteration type single base exchange
alteration region CDS
DNA changes c.535G>A
cDNA.1623G>A
g.22025G>A
AA changes D179N Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 179
frameshift no
known variant Reference ID: rs9575
databasehomozygous (T/T)heterozygousallele carriers
1000G64610441690
ExAC13129650919638
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.7331
1.4150.998
(flanking)0.0160.985
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased22022wt: 0.41 / mu: 0.46wt: AAGCCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACC
mu: AAGCCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACC		 ttaa|TCGA
Acc marginally increased22025wt: 0.7634 / mu: 0.8039 (marginal change - not scored)wt: CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
mu: CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA		 atcg|ACGA
Donor marginally increased22022wt: 0.9442 / mu: 0.9558 (marginal change - not scored)wt: TCTTAATCGACGAAT
mu: TCTTAATCAACGAAT		 TTAA|tcga
Donor increased22025wt: 0.28 / mu: 0.47wt: TAATCGACGAATCAG
mu: TAATCAACGAATCAG		 ATCG|acga
Donor increased22030wt: 0.72 / mu: 0.89wt: GACGAATCAGAGCCT
mu: AACGAATCAGAGCCT		 CGAA|tcag
distance from splice site 83
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      179NEAKASSSILIDESEPTTNIQIRL
mutated  all conserved    179NEAKASSSILINESEPTTNIQIR
Ptroglodytes  all identical  ENSPTRG00000013164  290NEAKASSSILIDESEPTTNIQIR
Mmulatta  all identical  ENSMMUG00000015994  292NEAKASSSILIDESEPTTNIQIR
Fcatus  all identical  ENSFCAG00000012845  273NEAKASSSVSIDESQPTTNIQIR
Mmusculus  all conserved  ENSMUSG00000027455  292NEAKASSSILINEAEPTTNIQIR
Ggallus  all identical  ENSGALG00000006182  290NEAKASSAIAIDESEPVTNIQIR
Trubripes  all identical  ENSTRUG00000007860  292AANEASTSVTLDYDQPLTSIQIR
Drerio  all identical  ENSDARG00000087640  291SEAEASASISVDTSQPITSIQI
Dmelanogaster  all conserved  FBgn0033179  327QEASARDAINLNSEAPSTTLQIR
Celegans  all conserved  Y94H6A.9  213NEAKQLEDAKKELSTNMNEPTTNIQIR
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
179244DOMAINSEP.lost
180193STRANDmight get lost (downstream of altered splice site)
198200STRANDmight get lost (downstream of altered splice site)
204206TURNmight get lost (downstream of altered splice site)
207215HELIXmight get lost (downstream of altered splice site)
220223HELIXmight get lost (downstream of altered splice site)
231239STRANDmight get lost (downstream of altered splice site)
245250STRANDmight get lost (downstream of altered splice site)
255259STRANDmight get lost (downstream of altered splice site)
260262HELIXmight get lost (downstream of altered splice site)
265268STRANDmight get lost (downstream of altered splice site)
272272MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
291368DOMAINUBX.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 780 / 780
position (AA) of stopcodon in wt / mu AA sequence 260 / 260
position of stopcodon in wt / mu cDNA 1868 / 1868
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 1089 / 1089
chromosome 20
strand -1
last intron/exon boundary 1706
theoretical NMD boundary in CDS 567
length of CDS 780
coding sequence (CDS) position 535
cDNA position
(for ins/del: last normal base / first normal base)		 1623
gDNA position
(for ins/del: last normal base / first normal base)		 22025
chromosomal position
(for ins/del: last normal base / first normal base)		 1426393
original gDNA sequence snippet CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
altered gDNA sequence snippet CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA
original cDNA sequence snippet CCAGCTCTTCCATCTTAATCGACGAATCAGAGCCTACCACA
altered cDNA sequence snippet CCAGCTCTTCCATCTTAATCAACGAATCAGAGCCTACCACA
wildtype AA sequence MTKMKMRRKR KARGAKEHGA VAVERVTKSP GETSKPRPFA GGGYRLGAAP EEESAYVAGE
KRQHSSQDVH VVLKLWKSGF SLDNGELRSY QDPSNAQFLE SIRRGEVPAE LRRLAHGGQV
NLDMEDHRDE DFVKPKGAFK AFTGEGQKLG STAPQVLSTS SPAQQAENEA KASSSILIDE
SEPTTNIQIR LADGGRLVQK FNHSHRISDI RLFIVDARPA MAATSFILMT TFPNKELADE
SQTLKEANLL NAVIVQRLT*
mutated AA sequence MTKMKMRRKR KARGAKEHGA VAVERVTKSP GETSKPRPFA GGGYRLGAAP EEESAYVAGE
KRQHSSQDVH VVLKLWKSGF SLDNGELRSY QDPSNAQFLE SIRRGEVPAE LRRLAHGGQV
NLDMEDHRDE DFVKPKGAFK AFTGEGQKLG STAPQVLSTS SPAQQAENEA KASSSILINE
SEPTTNIQIR LADGGRLVQK FNHSHRISDI RLFIVDARPA MAATSFILMT TFPNKELADE
SQTLKEANLL NAVIVQRLT*
speed 0.63 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