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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P11532: Variant p.Asp3335His

Dystrophin
Gene: DMD
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Variant information Variant position: help 3335 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Aspartate (D) to Histidine (H) at position 3335 (D3335H, p.Asp3335His). 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: help Change from medium size and acidic (D) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In DMD; does not affect protein stability; does not affect protein expression at the sarcolemma; interaction with DAG1 is reduced. Any additional useful information about the variant.


Sequence information Variant position: help 3335 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 3685 The length of the canonical sequence.
Location on the sequence: help ICKECPIIGFRYRSLKHFNY D ICQSCFFSGRVAKGHKMHYP 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         ICKECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYP

                              ICKECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYP

Mouse                         ICKECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYP

Rat                           ICKECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYP

Pig                           ICKECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYP

Chicken                       ICKECPIIGFRYRSLKHFNYDICQSCFFSGRVAKGHKMHYP

Caenorhabditis elegans        VCKMFPIIGIRYRCLTCFNCDLCQNCFFSQRTAKSHRTNHP
Sequence annotation in neighborhood: help 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 – 3685 Dystrophin
Zinc finger 3308 – 3364 ZZ-type; degenerate
Region 3058 – 3408 Interaction with SYNM
Binding site 3316 – 3316
Binding site 3337 – 3337
Binding site 3340 – 3340



Literature citations
A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype.
Goldberg L.R.; Hausmanowa-Petrusewicz I.; Fidzianska A.; Duggan D.J.; Steinberg L.S.; Hoffman E.P.;
Ann. Neurol. 44:971-976(1998)
Cited for: VARIANT DMD HIS-3335; The ZZ domain of dystrophin in DMD: making sense of missense mutations.
Vulin A.; Wein N.; Strandjord D.M.; Johnson E.K.; Findlay A.R.; Maiti B.; Howard M.T.; Kaminoh Y.J.; Taylor L.E.; Simmons T.R.; Ray W.C.; Montanaro F.; Ervasti J.M.; Flanigan K.M.;
Hum. Mutat. 35:257-264(2014)
Cited for: CHARACTERIZATION OF VARIANTS DMD PHE-3313; HIS-3335 AND TYR-3340;
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.