Results for the protein: NP

Results for the Protein: NP_001054

4557871

7018

TF

NCBI

serotransferrin precursor [Homo sapiens]

Known Diseases associated with this Protein:
  ALZHEIMER DISEASE, SUSCEPTIBILITY TO, INCLUDED
  ATRANSFERRINEMIA
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
  TRANSFERRIN VARIANT B2
  TRANSFERRIN VARIANT BV
  TRANSFERRIN VARIANT C1/C2
  TRANSFERRIN VARIANT CHI
  TRANSFERRIN VARIANT D1

9

5

9

5

0

Tips:

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Default View: TR_FER - smart00094 Transferrin - pfam00405	RefSeq Protein: NP_001054 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Transferrin	pfam00405	9.2e-110	361	683
TR_FER	smart00094	2.4e-213	25	347
TR_FER	smart00094	4.8e-218	361	683

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs41298293	Polymorphism	p.ARG42LEU	N/A
dbSNP	rs8177238	Polymorphism	p.ASP296GLY	N/A
dbSNP	rs1799899	Polymorphism	p.GLY277SER	N/A
dbSNP	rs2692696	Polymorphism	p.ILE448VAL	N/A
dbSNP	rs1049296	Polymorphism	p.PRO589SER	N/A
OMIM	190000.0007	Disease	p.ALA477PRO	ATRANSFERRINEMIA
OMIM	190000.0010	Disease	p.ASP77ASN	ATRANSFERRINEMIA
OMIM	190000.0009	Disease	p.GLU375LYS	ATRANSFERRINEMIA
OMIM	190000.0001	Disease	p.GLY277ASP	TRANSFERRIN VARIANT D1
OMIM	190000.0003	Disease	p.GLY652GLU	TRANSFERRIN VARIANT B2
OMIM	190000.0008	Disease	p.GLY277SER	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	190000.0002	Disease	p.HIS300ARG	TRANSFERRIN VARIANT CHI
OMIM	190000.0005	Disease	p.LYS627GLU	TRANSFERRIN VARIANT Bv
OMIM	190000.0004	Disease	p.PRO570SER	TRANSFERRIN VARIANT C1/C2\|\|ALZHEIMER DISEASE, SUSCEPTIBILITY TO, INCLUDED

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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