UniProtKB/Swiss-Prot P03915: Variant p.Asn447Ser

NADH-ubiquinone oxidoreductase chain 5
Gene: MT-ND5
Feedback?

Variant information Variant position:

447 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 Asparagine (N) to Serine (S) at position 447 (N447S, p.Asn447Ser). 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
Variant description:

Found in a patient with mitochondrial complex I deficiency; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1603224300 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

ILLTLTGQPRFPTLTNINEN N PTLLNPIKRLAAGSLFAGFL 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                         ILLTLTGQPR--FPTLTNINENNPTLLNPIKRLAAGSLFAGFL

Gorilla                       ILLTLTGQPR--FPTFANINENYSTLLNPIKRLTIGSLFAG

                              MFFALLGQPR--FSPMILINENNPLLINSIKRLLIGSVFAG

Chimpanzee                    ILLTLTGQPR--FPTLTNINENNPTLLNPIKRLTIGSLFAG

Mouse                         IYFVTMTKPR--FPPLISINENDPDLMNPIKRLAFGSIFAG

Rat                           IYFVTMTKPR--YSPLITINENNPNLINPIKRLALGSILAG

Pig                           IFFAFLGKPR--FPPLVLINENNPLLINSIKRLLIGSIFAG

Bovine                        IFFALLGQPR--FPTLVNINENNPLLINSIKRLLIGSLFAG

Rabbit                        IFFALLGQPR--YPALIVINENNPLLINSIKRLALGSIFAG

Sheep                         IFFALLGQPR--FPTLININENNPFLINSIKRLLIGSLFAG

Cat                           MFFVLLGQPR--FNTLNLINENNTHLINSIKRLLIGSIFAG

Horse                         IFFALLGQPR--FLPLTSINENNPFLINSIKRLLIGSIFAG

Chicken                       TLLVQTGHTR--TPSNHPINENTPPAILPIMRLALGSIMAG

                              ILLTLMGQPR--FPTLTNINENNPTLLNPIKRLTIGSLFAG

Xenopus laevis                IFFASMGHPR--SNPLSPINENNKTVINPIKRLAWGSIVAG

Zebrafish                     IYLVCLGSPR--HKTYETIDENH-IPTNTIQRLAWGSIIAG

Caenorhabditis elegans        WKSFFLSFNK-------VMNHYSSTVFMNFLSLVLVIFSIS

Drosophila                    VYYSMTGDLN--CGSLNMLNDESWIMLRGMMGLLIMSIIGG

Slime mold                    LILTFFNKPRMQYKTIAGVHEASTNMVIPLVILALCSIFIG

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 – 603	NADH-ubiquinone oxidoreductase chain 5

Literature citations
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Calvo S.E.; Tucker E.J.; Compton A.G.; Kirby D.M.; Crawford G.; Burtt N.P.; Rivas M.; Guiducci C.; Bruno D.L.; Goldberger O.A.; Redman M.C.; Wiltshire E.; Wilson C.J.; Altshuler D.; Gabriel S.B.; Daly M.J.; Thorburn D.R.; Mootha V.K.;
Nat. Genet. 42:851-858(2010)
Cited for: VARIANTS ALA-253 AND SER-447;

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.