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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q12772: Variant p.Val623Met

Sterol regulatory element-binding protein 2
Gene: SREBF2
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Variant information Variant position: help 623
Type of variant: help LB/B
Residue change: help From Valine (V) to Methionine (M) at position 623 (V623M, p.Val623Met).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 623
Protein sequence length: help 1141
Location on the sequence: help VLGRALPTSRLDLACSLSWN V IRYSLQKLRLVRWLLKKVFQ
Residue conservation: help 
Human                         VLGRALPTSRLDLACSLSWNVIRYSLQKLRLVRWLLKKVFQ

Mouse                         VLGRALPTSRLDLACSLSWNVIRYSLQKLRLVRWLLKKVFQ

Rat                           VLGRALPTSRLDLACSLSWNVIRYSLQKLRLVRWLLKKVFQ

Xenopus laevis                VLGRSLPATRLDLACSLSWNIIRCSLQKISLVRWLLKH---

Zebrafish                     VLSRVLPVTTLDIMCSLSWNLIRYCLRRPAPLGWLVRL---
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1141 Sterol regulatory element-binding protein 2
Topological domain 555 – 1139 Cytoplasmic
Alternative sequence 589 – 684 DFAAAAGNLQTCLAVLGRALPTSRLDLACSLSWNVIRYSLQKLRLVRWLLKKVFQCRRATPATEAGFEDEAKTSARDAALAYHRLHQLHITGKLPA -> VYGKKSGATHSIEEELNIHISRGTRTRTLLSSRRFCSCCRQPTNLPGSFGPGTAHLPPGPGLQPLLERDPLQPAEATPGALAAQESLPVPAGHASH. In isoform 2.



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.