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UniProtKB/Swiss-Prot P03886: Variant p.Ser205Pro

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

Variant position:  205
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 Serine (S) to Proline (P) at position 205 (S205P, p.Ser205Pro).
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 polar (S) 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



Sequence information

Variant position:  205
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:   WFISTLAETNRTPFDLAEGE  S ELVSGFNIEYAAGPFALFFM
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                         WFISTLAETNRTPFDLAEGESELVSGFNIEYAAGPFALFFM

Gorilla                       WFISTLAETNRTPFDLAEGESELVSGFNIEYAAGPLALFFM

                              WFISTLAETNRAPFDLTEGESELVSGFNVEYAAGPFALFFL

Chimpanzee                    WFISTLAETNRTPFDLTEGESELVSGFNIEYAAGPFALFFM

Mouse                         WFISTLAETNRAPFDLTEGESELVSGFNVEYAAGPFALFFM

Rat                           WYISTLAETNRAPFDLTEGESELVSGFNVEYAAGPFALFFM

Pig                           WFISTLAETNRAPFDLTEGESELVSGFNVEYAAGPFAMFFM

Bovine                        WFISTLAETNRAPFDLTEGESELVSGFNVEYAAGPFALFFM

Rabbit                        WFISTLAETNRAPFDLTEGESELVSGFNVEYAGGPFALFFL

Sheep                         WFISTLAETNRAPFDLTEGESELVSGFNVEYAAGPFALFFM

Cat                           WFISTLAETNRAPFDLTEGESELVSGFDVEYAAGPFALFFL

Horse                         WFISTLAETNRAPFDLTEGESELVSGFNVEYAAGPFALFFL

Chicken                       WYISTLAETNRAPFDLTEGESELVSGFNVEYAAGPFAMFFL

Xenopus laevis                WYISTLAETNRAPFDLTEGESELVSGFNVEYAGGPFALFSL

Zebrafish                     WFISTLAETNRAPFDLTEGESELVSGFNVEYAAGPFALFFL

Caenorhabditis elegans        ----VIAELNRAPFDFSEGERELVRGFNVEFARVAFVLLFL

Drosophila                    WMSISLAETNRTPFDFAEGESELVSGFNVEYSSGGFALIFM

Slime mold                    AFISALTETNRPPFDLPEAEAELVSGYNVEYSSTGFALFFL

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.

TypePositionsDescription
Chain 1 – 318 NADH-ubiquinone oxidoreductase chain 1


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 PRO-205; CYS-255 AND PRO-288;

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.