UniProtKB/Swiss-Prot P22830: Variant p.Arg96Gln

Ferrochelatase, mitochondrial
Gene: FECH
Feedback?

Variant information Variant position:

96 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Glutamine (Q) at position 96 (R96Q, p.Arg96Gln). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs1041951 [ dbSNP | Ensembl ]

Sequence information Variant position:

96 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

423 The length of the canonical sequence.
Location on the sequence:

MGGPETLGDVHDFLLRLFLD R DLMTLPIQNKLAPFIAKRRT The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         MGGPETLGDVHDFLLRLFLDRDLMTLP--IQNKLAPFIAKRRT

Chimpanzee                    MGGPETLGDVHDFLLRLFLDRDLMTLP--IQNKLAPFIAKR

Mouse                         MGGPETLGEVQDFLQRLFLDRDLMTLP--IQNKLAPFIAKR

Bovine                        MGGPETVEEVQDFLQRLFLDQDLMTLP--VQDKLGPFIAKR

Chicken                       MGGPERLDDVHDFLLRLFLDRDLMTLP--AQNKLAPFIAKR

Xenopus laevis                MGGPETLDDVHGFLLRLFLDKDLMTLP--AQSKLAPFIAKR

Drosophila                    MGGPTHTDQVHDYLLRIMTDRDMIQLP--VQSRLGPWIAQR

Slime mold                    LGGPSKLEEVEPFLTRLFTDKEIFKLP--FQKYTGTLIAKR

Baker's yeast                 MGGPSKVEETYDFLYQLFADNDLIPISAKYQKTIAKYIAKF

Fission yeast                 MGGPSNLDEVGPFLERLFTDGDIIPLGY-FQNSLGKFIAKR

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	55 – 423	Ferrochelatase, mitochondrial
Mutagenesis	110 – 110	F -> A. Increases activity inhibition upon interaction with PGRMC1.
Turn	96 – 98

Literature citations
Molecular cloning and sequence analysis of cDNA encoding human ferrochelatase.
Nakahashi Y.; Taketani S.; Okuda M.; Inoue K.; Tokunaga R.;
Biochem. Biophys. Res. Commun. 173:748-755(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT GLN-96; Ferrochelatase: complete human gene sequence, amplifiable polymorphisms and molecular study of 12 families with erythropoietic protoporphyria.
Gouya L.M.; Martin C.; Deybach J.-C.; Puy H.V.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLN-96;

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.