UniProtKB/Swiss-Prot P03886: Variant p.Tyr30Cys

NADH-ubiquinone oxidoreductase chain 1
Gene: MT-ND1
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Variant information Variant position:

30 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 Tyrosine (Y) to Cysteine (C) at position 30 (Y30C, p.Tyr30Cys). 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 aromatic (Y) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 a patient with hypertrophic cardiomyopathy and profound hearing loss. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1556422722 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

IVPILIAMAFLMLTERKILG Y MQLRKGPNVVGPYGLLQPFA 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                         IVPILIAMAFLMLTERKILGYMQLRKGPNVVGPYGLLQPFA

Gorilla                       IVPILIAMAFLMLTERKILGYMQLRKGPNVVGPYGLLQPFA

                              IIPILLAVAFLTLVERKVLGYMQLRKGPNIVGPYGLLQPIA

Chimpanzee                    IVPILIAMAFLMLTERKILGYMQLRKGPNIVGPYGLLQPFA

Mouse                         LVPILIAMAFLTLVERKILGYMQLRKGPNIVGPYGILQPFA

Rat                           LIPILIAMAFLTLVERKILGYMQLRKGPNIVGPYGILQPFA

Pig                           IIPILLAVAFLTLVERKVLGYMQLRKGPNVVGPYGLLQPIA

Bovine                        IIPILLAVAFLTLVERKVLGYMQLRKGPNVVGPYGLLQPIA

Rabbit                        ILPVLLAMAFLTLVERKILGYMQLRKGPNIVGPYGLLQPIA

Sheep                         IIPILLAVAFLTLVERKVLGYMQFRKGPNVVGPYGLLQPIA

Cat                           IIPILLAVAFLTLVERKVLGYMQLRKGPNVVGPYGLLQPIA

Horse                         IVPILLAVAFLTLVERKVLGYMQLRKGPNIVGPYGLLQPIA

Chicken                       ILPILIAVAFLTLVERKILSYMQARKGPNIVGPFGLLQPVA

Xenopus laevis                MIPILLAVAFLTLIERKVLGYMQHRKGPNIVGPTGLIQPIA

Zebrafish                     AVPVLIAVAFLTLVERKVLGYMQLRKGPNVMGPRGLLQSVA

Caenorhabditis elegans        MIFIVQSIAFITLYERHLLGSSQNRLGPTKVTFMGLAQALL

Drosophila                    IICVLVSVAFLTLLERKVLGYIQIRKGPNKVGLMGIPQPFC

Slime mold                    IIGLLIGVAFATLLERKVMAAMQKRRGPNVVGFVGLLQPLA

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 – 318	NADH-ubiquinone oxidoreductase chain 1

Literature citations
A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss.
Chamkha I.; Mkaouar-Rebai E.; Aloulou H.; Chabchoub I.; Kifagi C.; Fendri-Kriaa N.; Kammoun T.; Hachicha M.; Fakhfakh F.;
Biochem. Biophys. Res. Commun. 404:504-510(2011)
Cited for: VARIANT CYS-30;

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.