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UniProtKB/Swiss-Prot P01920: Variant p.Glu194Asp

HLA class II histocompatibility antigen, DQ beta 1 chain
Gene: HLA-DQB1
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Variant information Variant position: help 194
Type of variant: help LB/B
Residue change: help From Glutamate (E) to Aspartate (D) at position 194 (E194D, p.Glu194Asp).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and acidic.
BLOSUM score: help 2
Polymorphism: help The following alleles of HLA-DQB1 are known: DQB1*02:01, DQB1*02:02, DQB1*02:03, DQB1*02:04, DQB1*02:05, DQB1*03:01, DQB1*03:02, DQB1*03:03, DQB1*03:04, DQB1*03:05, DQB1*03:06, DQB1*03:07, DQB1*03:08, DQB1*03:09, DQB1*03:10, DQB1*03:11, DQB1*03:12, DQB1*03:13, DQB1*03:14, DQB1*03:15, DQB1*03:16, DQB1*03:17, DQB1*03:18, DQB1*03:19, DQB1*03:20, DQB1*03:21, DQB1*03:22, DQB1*03:23, DQB1*03:24, DQB1*03:25, DQB1*03:26, DQB1*04:01, DQB1*04:02, DQB1*04:03, DQB1*05:01, DQB1*05:02, DQB1*05:03, DQB1*05:04, DQB1*05:05, DQB1*06:01, DQB1*06:02, DQB1*06:03, DQB1*06:04, DQB1*06:05, DQB1*06:06, DQB1*06:07, DQB1*06:08, DQB1*06:09, DQB1*06:10, DQB1*06:11, DQB1*06:12, DQB1*06:13, DQB1*06:14, DQB1*06:15, DQB1*06:16, DQB1*06:17, DQB1*06:18, DQB1*06:19, DQB1*06:20, DQB1*06:21, DQB1*06:22, DQB1*06:23, DQB1*06:24, DQB1*06:25, DQB1*06:27, DQB1*06:28, DQB1*06:29, DQB1*06:30, DQB1*06:31, DQB1*06:32, DQB1*06:33, DQB1*06:34, DQB1*06:35, DQB1*06:36, DQB1*06:37, DQB1*06:38, and DQB1*06:39. The sequence shown is that of DQB1*03:01.DQ2 (heterodimer of DQA1*05:01/DQB1*02:01) is associated with more than 90% of celiac disease patients. A minority displays DQ8 (heterodimer of DQA1*03/DQB1*03:02). - DQ0602 (heterodimer of DQA1*01:02/DQB1*06:02) confers dominant protection against type 1 diabetes (T1D) and strong susceptibility to narcolepsy. DQB1*06:02 has been found to be present in most of the narcolepsy patients. As well 98% of the patients with an HCRT deficiency are positive for DQB1*06:02. -
Other resources: help


Sequence information Variant position: help 194
Protein sequence length: help 261
Location on the sequence: help VVSTPLIRNGDWTFQILVML E MTPQHGDVYTCHVEHPSLQN
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 33 – 261 HLA class II histocompatibility antigen, DQ beta 1 chain
Topological domain 33 – 230 Extracellular
Domain 129 – 217 Ig-like C1-type
Region 127 – 220 Beta-2
Disulfide bond 149 – 205
Beta strand 187 – 194



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.