mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 1.76536936110322e-21 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr18:66513615A>GN/A show variant in all transcripts IGV

HGNC symbol

CCDC102B

Ensembl transcript ID

ENST00000358653

Genbank transcript ID

N/A

UniProt peptide

Q68D86

alteration type

single base exchange

alteration region

CDS

DNA changes

c.936A>G
cDNA.1053A>G
g.131170A>G

AA changes

no AA changes

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

known variant

Reference ID: rs2187094

database	homozygous (G/G)	heterozygous	allele carriers
1000G	451	940	1391
ExAC	9846	13075	22921

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.511	1
	2.105	1
(flanking)	0.932	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	131169	sequence motif lost	-	wt: GGAA\|gtat mu: GGAG.gtat
Acc increased	131162	wt: 0.77 / mu: 0.86	wt: GAGTCGGCTTTGTCTCTGTGGAAGTGGAAGTATGAAGAACT mu: GAGTCGGCTTTGTCTCTGTGGAAGTGGAGGTATGAAGAACT	gtgg\|AAGT
Acc marginally increased	131160	wt: 0.9549 / mu: 0.9600 (marginal change - not scored)	wt: TGGAGTCGGCTTTGTCTCTGTGGAAGTGGAAGTATGAAGAA mu: TGGAGTCGGCTTTGTCTCTGTGGAAGTGGAGGTATGAAGAA	ctgt\|GGAA
Donor gained	131164	0.99	mu: GTGGAAGTGGAGGTA	GGAA\|gtgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
268	337	COILED	Potential.	might get lost (downstream of altered splice site)
363	513	COILED	Potential.	might get lost (downstream of altered splice site)
382	382	CONFLICT	R -> G (in Ref. 1; CAH18334).	might get lost (downstream of altered splice site)
469	469	CONFLICT	K -> R (in Ref. 1; CAH18334).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

position of stopcodon in wt / mu CDS

1275 / 1275

position (AA) of stopcodon in wt / mu AA sequence

425 / 425

position of stopcodon in wt / mu cDNA

1392 / 1392

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

118 / 118

chromosome

strand

last intron/exon boundary

1381

theoretical NMD boundary in CDS

1213

length of CDS

1275

coding sequence (CDS) position

936

cDNA position
(for ins/del: last normal base / first normal base)

1053

gDNA position
(for ins/del: last normal base / first normal base)

131170

chromosomal position
(for ins/del: last normal base / first normal base)

66513615

original gDNA sequence snippet

TTTGTCTCTGTGGAAGTGGAAGTATGAAGAACTGAAAGAAT

altered gDNA sequence snippet

TTTGTCTCTGTGGAAGTGGAGGTATGAAGAACTGAAAGAAT

original cDNA sequence snippet

TTTGTCTCTGTGGAAGTGGAATTTGACATTCTTCTTGGTCA

altered cDNA sequence snippet

TTTGTCTCTGTGGAAGTGGAGTTTGACATTCTTCTTGGTCA

wildtype AA sequence

MNLDSIHRLI EETQIFQMQQ SSIKSRGDMV APASPPRDTC NTCFPLHGLQ SHAAHNFCAH
SYNTNKWDIC EELRLRELEE VKARAAQMEK TMRWWSDCTA NWREKWSKVR AERNSAREEG
RQLRIKLEMA MKELSTLKKK QSLPPQKEAL EAKVTQDLKL PGFVEESCEH TDQFQLSSQM
HESIREYLVK RQFSTKEDTN NKEQGVVIDS LKLSEEMKPN LDGVDLFNNG GSGNGETKTG
LRLKAINLPL ENEVTEISAL QVHLDEFQKI LWKERDLSFK SLKIVNTDRL NAHSFGKRNR
ETGVGFVSVE VEFDILLGQH NDEMQELSGN IKEESKSQNS KDRVICELRA ELERLQAENT
SEWDKREILE REKQGLEREN RRLKIQVKEM EELLDKKNRL SANSQSPDFK MSQIDLQEKN
QDVK*

mutated AA sequence

speed

0.74 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