Results for the protein: Q9HC84

Results for the Protein: Q9HC84

308153579

727897

MUC5B

NCBI, UniProt

MUC5B_HUMAN RecName: Full=Mucin-5B; Short=MUC-5B; AltName: Full=Cervical mucin; AltName: Full=High molecular weight salivary mucin MG1; AltName: Full=Mucin-5 subtype B, tracheobronchial; AltName: Full=Sublingual gland mucin; Flags: Precursor

			0 55 0 41 14

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Default View: VWD - smart00216 C8 - pfam08742 C8 - smart00832 VWC_out - smart00215 VWC - smart00214 CT - smart00041	Swiss-Prot Protein: Q9HC84 Identical to: NP_002449 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
C8	pfam08742	1.9e-20	255	326
C8	smart00832	1.5e-07	258	326
VWC_out	smart00215	6.3e-15	387	455
VWD	smart00216	3e-37	414	578
C8	pfam08742	6.9e-34	615	689
C8	smart00832	5.8e-33	615	690
VWC_out	smart00215	7.4e-06	857	926
VWD	smart00216	1e-39	884	1042
C8	pfam08742	1.3e-31	1078	1152
C8	smart00832	2.4e-32	1078	1152
VWD	smart00216	3.1e-59	5064	5237
C8	pfam08742	1.1e-24	5284	5356
C8	smart00832	1.1e-15	5288	5354
VWC	smart00214	8.1e-08	5414	5483
VWC	smart00214	8.8e-10	5523	5586
CT	smart00041	4.9e-33	5660	5742

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs201362727	Polymorphism	p.ALA3147GLY	N/A
Swiss-Prot	VAR_063627	Polymorphism	p.ALA4404GLY	N/A
dbSNP	rs146229325	Polymorphism	p.ALA2025THR	N/A
Swiss-Prot	VAR_059540	Polymorphism	p.ALA2027THR	N/A
Swiss-Prot	VAR_063631	Polymorphism	p.ALA4867THR	N/A
dbSNP	rs3829224	Polymorphism	p.ALA5241THR	N/A
dbSNP	rs56141839	Polymorphism	p.ARG1403GLN	N/A
dbSNP	rs10835639	Polymorphism	p.ARG1401HIS	N/A
dbSNP	rs137973688	Polymorphism	p.ARG2211PRO	N/A
Swiss-Prot	VAR_063625	Polymorphism	p.ARG3468PRO	N/A
dbSNP	rs2075853	Polymorphism	p.ARG51TRP	N/A
dbSNP	rs55933911	Polymorphism	p.ASN1859LYS	N/A
dbSNP	rs55856616	Polymorphism	p.ASP5554ASN	N/A
dbSNP	rs185838223	Polymorphism	p.GLN4179HIS	N/A
dbSNP	rs56220864	Polymorphism	p.GLU5474ASP	N/A
dbSNP	rs2672785	Polymorphism	p.GLU34GLY	N/A
dbSNP	rs199749553	Polymorphism	p.GLU2438LYS	N/A
dbSNP	rs1541314	Polymorphism	p.GLY1805SER	N/A
dbSNP	rs56179538	Polymorphism	p.GLY253SER	N/A
dbSNP	rs202133597	Polymorphism	p.GLY2790VAL	N/A
dbSNP	rs199641655	Polymorphism	p.GLY4047VAL	N/A
dbSNP	rs4963031	Polymorphism	p.LEU2238PRO	N/A
dbSNP	rs56232219	Polymorphism	p.LEU5181PRO	N/A
Swiss-Prot	VAR_063620	Polymorphism	p.MET2194THR	N/A
Swiss-Prot	VAR_063622	Polymorphism	p.MET2425THR	N/A
Swiss-Prot	VAR_063623	Polymorphism	p.PHE3072SER	N/A
dbSNP	rs55669609	Polymorphism	p.PRO1472LEU	N/A
Swiss-Prot	VAR_063618	Polymorphism	p.PRO1889LEU	N/A
dbSNP	rs139960671	Polymorphism	p.PRO2830LEU	N/A
Swiss-Prot	VAR_063628	Polymorphism	p.PRO4440LEU	N/A
dbSNP	rs115299660	Polymorphism	p.PRO1310SER	N/A
dbSNP	rs56159668	Polymorphism	p.PRO4895SER	N/A
dbSNP	rs78692183	Polymorphism	p.SER1883GLY	N/A
dbSNP	rs2943527	Polymorphism	p.SER3500GLY	N/A
dbSNP	rs55693520	Polymorphism	p.SER4897LEU	N/A
dbSNP	rs200297867	Polymorphism	p.SER2760PRO	N/A
dbSNP	rs200544884	Polymorphism	p.SER4017PRO	N/A
Swiss-Prot	VAR_014123	Polymorphism	p.SER5196THR	N/A
Swiss-Prot	VAR_063624	Polymorphism	p.THR3284ALA	N/A
Swiss-Prot	VAR_063632	Polymorphism	p.THR4882ALA	N/A
dbSNP	rs3021158	Polymorphism	p.THR2626ARG	N/A
dbSNP	rs199752800	Polymorphism	p.THR2506ILE	N/A
dbSNP	rs148995598	Polymorphism	p.THR3763ILE	N/A
dbSNP	rs61747489	Polymorphism	p.THR4268ILE	N/A
Swiss-Prot	VAR_059538	Polymorphism	p.THR1360MET	N/A
dbSNP	rs200197337	Polymorphism	p.THR2559MET	N/A
dbSNP	rs79239311	Polymorphism	p.THR3702MET	N/A
Swiss-Prot	VAR_063626	Polymorphism	p.THR3816MET	N/A
dbSNP	rs201822078	Polymorphism	p.THR4408MET	N/A
dbSNP	rs2943511	Polymorphism	p.THR4712MET	N/A
dbSNP	rs2943512	Polymorphism	p.THR4706PRO	N/A
dbSNP	rs117736426	Polymorphism	p.THR2610SER	N/A
dbSNP	rs2943521	Polymorphism	p.VAL3909ILE	N/A
dbSNP	rs55657020	Polymorphism	p.VAL5436MET	N/A
dbSNP	rs201326462	Polymorphism	p.VAL4323PHE	N/A

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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