UniProtKB/Swiss-Prot Q96D96: Variant p.Met91Thr

Voltage-gated hydrogen channel 1
Gene: HVCN1
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Variant information Variant position:

91 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 Methionine (M) to Threonine (T) at position 91 (M91T, p.Met91Thr). 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 hydrophobic (M) 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
Polymorphism:

Genetic variation in HVCN1 may alter the likelyhood of channel opening. Additional information on the polymorphism described.
Variant description:

Requires higher voltages and larger pH gradients for proton current activation; shifts channel activation toward more alkaline pH. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs76006664 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

APDVAPAPGPAPRAPLDFRG M LRKLFSSHRFQVIIICLVVL 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                         APDVAPAPGPAPRAPLDFRGMLRKLFSSHRFQVIIICLVVL

Mouse                         GPDAEAGSASTPRQSLDFRSRLRKLFSSHRFQVIIICLVVL

Chicken                       DSEIKLEPS---RGHVTFQDVMKKLFSSRRFQIVIVFLVIV

Xenopus laevis                PLKNTPHPF---IASYSFRGALKWLLSSHKFQIVIICLVIL

Xenopus tropicalis            EPKNTPHPF---IASYSFRGALKWLFSSHKFQIVIICLVIL

Zebrafish                     GLEVSTGQH---LGQLSFRDSLRKLYSTERFQIVVVCLVVL

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 – 273	Voltage-gated hydrogen channel 1
Topological domain	1 – 100	Cytoplasmic
Modified residue	97 – 97	Phosphoserine
Alternative sequence	66 – 102	Missing. In isoform 2.
Mutagenesis	97 – 97	S -> A. Loss of a phosphorylation site. Strongly reduces phosphorylation.
Helix	87 – 99

Literature citations
Function of the HVCN1 proton channel in airway epithelia and a naturally occurring mutation, M91T.
Iovannisci D.; Illek B.; Fischer H.;
J. Gen. Physiol. 136:35-46(2010)
Cited for: FUNCTION; TRANSPORTER ACTIVITY; ACTIVITY REGULATION; BIOPHYSICOCHEMICAL PROPERTIES; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT THR-91; POLYMORPHISM;

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.