mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999730797239 (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)

chr3:50334231T>AN/A show variant in all transcripts IGV

HGNC symbol

HYAL3

Ensembl transcript ID

ENST00000450982

Genbank transcript ID

N/A

UniProt peptide

O43820

alteration type

single base exchange

alteration region

intron

DNA changes

g.2669A>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2269432

database	homozygous (A/A)	heterozygous	allele carriers
1000G	256	578	834
ExAC	2950	6792	9742

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.403	0
	-0.154	0.001
(flanking)	0.952	0.028

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

splice sites

splice site change before start ATG (at aa -5) |

effect	gDNA position	score	detection sequence	exon-intron border
Acc marginally increased	2661	wt: 0.9392 / mu: 0.9465 (marginal change - not scored)	wt: CCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAA mu: CCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAA	cccg\|GCCA
Acc marginally increased	2660	wt: 0.8908 / mu: 0.9041 (marginal change - not scored)	wt: TCCCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCA mu: TCCCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCA	cccc\|GGCC
Acc marginally increased	2662	wt: 0.6046 / mu: 0.6610 (marginal change - not scored)	wt: CCCACAGCCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAA mu: CCCACAGCCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAA	ccgg\|CCAC
Acc gained	2671	0.69	mu: CCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACTGC	ctgg\|AAGG

distance from splice site

1181

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	20	SIGNAL	Potential.	might get lost (downstream of altered splice site)
42	42	DISULFID	By similarity.	might get lost (downstream of altered splice site)
54	54	CONFLICT	A -> S (in Ref. 5; AAH05896).	might get lost (downstream of altered splice site)
69	69	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
129	129	ACT_SITE	Proton donor (By similarity).	might get lost (downstream of altered splice site)
205	205	DISULFID	By similarity.	might get lost (downstream of altered splice site)
215	215	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
220	220	DISULFID	By similarity.	might get lost (downstream of altered splice site)
331	331	DISULFID	By similarity.	might get lost (downstream of altered splice site)
352	407	DOMAIN	EGF-like.	might get lost (downstream of altered splice site)
356	356	DISULFID	By similarity.	might get lost (downstream of altered splice site)
361	361	DISULFID	By similarity.	might get lost (downstream of altered splice site)
367	367	DISULFID	By similarity.	might get lost (downstream of altered splice site)
395	395	DISULFID	By similarity.	might get lost (downstream of altered splice site)
397	397	DISULFID	By similarity.	might get lost (downstream of altered splice site)
406	406	DISULFID	By similarity.	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

38 / 38

chromosome

strand

-1

last intron/exon boundary

932

theoretical NMD boundary in CDS

844

length of CDS

1164

coding sequence (CDS) position

N/A

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

N/A

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

2669

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

50334231

original gDNA sequence snippet

CCCCCTCTCCCCGGCCACCCAGGAAGGCCCCAAACCTGACT

altered gDNA sequence snippet

CCCCCTCTCCCCGGCCACCCTGGAAGGCCCCAAACCTGACT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MTTQLGPALV LGVALCLGCG QPLPQVPERP FSVLWNVPSA HCEARFGVHL PLNALGIIAN
RGQHFHGQNM TIFYKNQLGL YPYFGPRGTA HNGGIPQALP LDRHLALAAY QIHHSLRPGF
AGPAVLDWEE WCPLWAGNWG RRRAYQAASW AWAQQVFPDL DPQEQLYKAY TGFEQAARAL
MEDTLRVAQA LRPHGLWGFY HYPACGNGWH SMASNYTGRC HAATLARNTQ LHWLWAASSA
LFPSIYLPPR LPPAHHQAFV RHRLEEAFRV ALVGHRHPLP VLAYVRLTHR RSGRFLSQEE
CWHLHDYLVD TLGPYVINVT RAAMACSHQR CHGHGRCARR DPGQMEAFLH LWPDGSLGDW
KSFSCHCYWG WAGPTCQEPR PGPKEAV*

mutated AA sequence

N/A

speed

0.51 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