UniProtKB/Swiss-Prot P03901: Variant p.Asn57Ser

NADH-ubiquinone oxidoreductase chain 4L
Gene: MT-ND4L
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Variant information Variant position:

57 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 Asparagine (N) to Serine (S) at position 57 (N57S, p.Asn57Ser). 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 medium size and polar (N) to small size and polar (S) 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 rs1603222927 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MLSLFIMATLMTLNTHSLLA N IVPIAMLVFAACEAAVGLAL 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                         MLSLFIM--ATLMTLNTHSLLANIVPIAMLVFAACEAAVGLAL

Gorilla                       MLSLFIM--ATLMTLNTHFLLANIVPITMLVFAACEAAVGL

                              MLSLFVM--MSVTILNNHLTLASMMPIVLLVFAACEAALGL

Rhesus macaque                MMSLFIM--ATLIASNTHFPLINIMPIILLVFAACETAVGL

Chimpanzee                    MLSLFIM--ATLMTLNTHSLLANIVPITMLVFAACEAAVGL

Mouse                         VLSLFIM--TSVTSLNSNSMSSMPIPITILVFAACEAAVGL

Rat                           MLSLFVM--TSTSTLNSNSMISMTIPITILVFAACEAAVGL

Pig                           MLSLFIM--STLIILNTHFTLANMMPIILLVFAACEAALGL

Bovine                        MLSLFVM--AALTILNSHFTLASMMPIILLVFAACEAALGL

Rabbit                        MLSLFVL--ITLTALNTHFTLSFMFPIILLVFAACEAAVGL

Goat                          MLSLFIM--ATLMILNSHFTLASMMPIILLVFAACEAALGL

Sheep                         MLSLFIL--ATLMILNSHFTLASMMPIILLVFAACEAALGL

Cat                           MLSLFIM--MAVAILNNHLTLASMTPIILLVFAACEAALGL

Horse                         MLSLFVM--ATMMVLNTHFTLASMMPIILLVFAACERALGL

Chicken                       MLSMFIP--LSIWPVENQTPSFALVPILMLAFSACEAGTGL

Xenopus laevis                LLMSMDG--IVLTPLHLTIYLSSMMLYIMLPFAAPEAATGL

Zebrafish                     MLSLFIS--MALWTLKTESMSLSTAPMLLLAFSACEASAGL

Caenorhabditis elegans        MLSLF---------LKFSYVLGEMMFFYFMCFSVISSILGM

Drosophila                    VLMLFFMLFIYLNMLNYESYFSMM----FLTFSVCEGALGL

Slime mold                    LGTLGML--FVLASVELNDILGELSGLYILTFTAAESAIGL

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 – 98	NADH-ubiquinone oxidoreductase chain 4L

Literature citations
Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.
Marzuki S.; Noer A.S.; Lertrit P.; Thyagarajan D.; Kapsa R.; Utthanaphol P.; Byrne E.;
Hum. Genet. 88:139-145(1991)
Cited for: VARIANTS ILE-36; SER-57 AND THR-61;

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.