UniProtKB/SwissProt variant VAR

Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial
Gene: CPOX
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Variant information Variant position:

295
Type of variant:

LP/P [Disclaimer]
Residue change:

From Histidine (H) to Aspartate (D) at position 295 (H295D, p.His295Asp).
Physico-chemical properties:

Change from medium size and polar (H) to medium size and acidic (D)
BLOSUM score:

-1
Variant description:

In HCP.
Other resources:

Variant rs121917870 [ dbSNP | Ensembl ]

Sequence information Variant position:

295
Protein sequence length:

454
Location on the sequence:

WWFGGGCDLTPTYLNQEDAV H FHRTLKEACDQHGPDLYPKF
Residue conservation:

Human                         WWFGGGCDLTPTYLNQEDAVHFHRTLKEACDQHGPD----LYPKF

Mouse                         WWFGGGCDLTPTYLNQEDAVHFHRTLKEACDQHGPD----I

Rat                           WWFGGGCDLTPTYLNREDAVHFHRTLKEACDQHGPD----I

Drosophila                    WWFGGGTDLTPYYLCEKDASHFHQTLKSACDEHDPT----Y

Slime mold                    WWFGGGVDLTPVYPKLDQVVEFHSTLKKVCDQYGQEENKTS

Baker's yeast                 WWFGGGADLTPSYLYEEDGQLFHQLHKDALDKHDTA----L

Fission yeast                 WWFGGGADLTPSILFEEDGKHFHKLHKEACDRHDPT----F

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	111 – 454	Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial
Alternative sequence	288 – 454	Missing. In isoform 2.
Helix	290 – 305

Literature citations
Three novel mutations in the coproporphyrinogen oxidase gene.
Lamoril J.; Deybach J.-C.; Puy H.; Grandchamp B.; Nordmann Y.;
Hum. Mutat. 9:78-80(1997)
Cited for: VARIANTS HCP 162-GLN--ALA-168 DEL AND ASP-295;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P36551: Variant p.His295Asp