UniProtKB/Swiss-Prot Q12948: Variant p.Ala85Pro

Forkhead box protein C1
Gene: FOXC1
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Variant information Variant position:

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

US 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 Alanine (A) to Proline (P) at position 85 (A85P, p.Ala85Pro). 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 small size and hydrophobic (A) to medium size and hydrophobic (P) 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
Variant description:

In RIEG3; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

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

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

GPYTPQPQPKDMVKPPYSYI A LITMAIQNAPDKKITLNGIY 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                         GPYTPQPQPKDMVKPPYSYIALITMAIQNAPDKKITLNGIY

Mouse                         GPYTPQPQPKDMVKPPYSYIALITMAIQNAPDKKITLNGIY

Xenopus tropicalis            GPYTPQPQPKDMVKPPYSYIALITMAIQNAPEKKITLNGIY

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	1 – 553	Forkhead box protein C1
DNA binding	77 – 168	Fork-head
Motif	78 – 93	Nuclear localization signal 1 (NLS 1)
Mutagenesis	68 – 68	T -> A. No effect on protein stability. No effect on transcriptional activity.
Mutagenesis	79 – 79	P -> A. Decreased nuclear localization. No effect on DNA-binding activity. Decreased transcriptional activity.
Mutagenesis	79 – 79	P -> E. Decreased nuclear localization. No effect on DNA-binding activity. Decreased transcriptional activity.
Mutagenesis	79 – 79	P -> K. Decreased nuclear localization. No effect on DNA-binding activity. Decreased transcriptional activity.
Mutagenesis	86 – 86	L -> A. Decreased nuclear localization. No effect on DNA-binding activity. Decreased transcriptional activity.
Mutagenesis	86 – 86	L -> E. Decreased nuclear localization. No effect on DNA-binding activity. Decreased transcriptional activity.
Mutagenesis	86 – 86	L -> K. Decreased nuclear localization. No effect on DNA-binding activity. Decreased transcriptional activity.
Mutagenesis	86 – 86	L -> P. Severely disrupts the protein function.
Mutagenesis	87 – 87	I -> AEK. Loss of protein stability.
Mutagenesis	91 – 91	I -> A. Decreased nuclear localization. Decreased DNA-binding activity. Decreased transcriptional activity.
Mutagenesis	91 – 91	I -> E. Decreased nuclear localization. No effect on DNA-binding activity. Decreased transcriptional activity.
Mutagenesis	91 – 91	I -> K. Decreased nuclear localization. No effect on DNA-binding activity. Decreased transcriptional activity.

Literature citations
Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome.
Fuse N.; Takahashi K.; Yokokura S.; Nishida K.;
Mol. Vis. 13:1005-1009(2007)
Cited for: VARIANT RIEG3 PRO-85;

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.