UniProtKB/Swiss-Prot O00429: Variant p.Ser71Thr

Dynamin-1-like protein
Gene: DNM1L
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Variant information Variant position:

71 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 Threonine (T) at position 71 (S71T, p.Ser71Thr). 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 polar (T) 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 rs1064610 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LPRGTGIVTRRPLILQLVHV S QEDKRKTTGEENGVEAEEWG 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                         LPRGTGIVTRRPLILQLVHVSQEDKRKTTGEEN-------------GVEAEEWG

Mouse                         LPRGTGVVTRRPLILQLVHVSPEDKRKTTGEEN-------G

Rat                           LPRGTGVVTRRPLILQLVHVSPEDKRKTTGEENDPATWKNS

Bovine                        LPRGTGIVTRRPLILQLVHVAPEDKRKTTGEENDPATWKNS

Zebrafish                     LPRGTGIVTRRPLILQLVHVDPEDRRKTSEENG--------

Caenorhabditis elegans        LPRGTGIVTRRPLILQLNHVALDDESKRRRSNG--------

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 – 736	Dynamin-1-like protein
Domain	22 – 302	Dynamin-type G
Alternative sequence	44 – 246	Missing. In isoform 7.
Alternative sequence	83 – 83	N -> NDPATWKNSRHLSK. In isoform 6, isoform 8 and isoform 9.
Mutagenesis	59 – 59	T -> A. Abolishes GTP hydrolysis. Impairs mitochondrial division. Reduces peroxisomal abundance.

Literature citations
Human dynamin-like protein interacts with the glycogen synthase kinase 3beta.
Hong Y.-R.; Chen C.-H.; Cheng D.-S.; Howng S.-L.; Chow C.-C.;
Biochem. Biophys. Res. Commun. 249:697-703(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); VARIANT THR-71; TISSUE SPECIFICITY; INTERACTION WITH GSK3B; REGION; Identification and functional characterization of a novel human protein highly related to the yeast dynamin-like GTPase Vps1p.
Imoto M.; Tachibana I.; Urrutia R.;
J. Cell Sci. 111:1341-1349(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT THR-71; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; MUTAGENESIS OF LYS-38; FUNCTION; Differential expression of four human dynamin-like protein variants in brain tumors.
Chen C.-H.; Howng S.-L.; Hwang S.-L.; Chou C.-K.; Liao C.-H.; Hong Y.-R.;
DNA Cell Biol. 19:189-194(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 3; 4 AND 5); VARIANT THR-71; TISSUE SPECIFICITY; INTERACTION WITH GSK3B;

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.