UniProtKB/Swiss-Prot Q9Y672: Variant p.Ser304Phe

Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase
Gene: ALG6
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Variant information Variant position:

304 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 Phenylalanine (F) at position 304 (S304F, p.Ser304Phe). 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 large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

Decreased function in dolichol-linked oligosaccharide biosynthetic process as shown by rescue experiments of defective glycosylation in an alg6-deficient S.cerevisiae strain. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs4630153 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

VFLKIKDILPRHIQLIMSFC S TFLSLLPACIKLILQPSSKG 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                         VFLKIKDILPRHIQLIMSFCSTFLSLLPACIKLILQPSSK-G

Mouse                         VFLKIKDTLPRHIQIAISFCFTLLSLLPACIKLTVRPSCK-

Rat                           VFLKIKDILPRHIQIAISFCFTFLSLLPACIKLTVQPSAK-

Chicken                       VLIKIKNVVSPQTQLKLSFAVTFLSLLPTCIKLTVQPSLR-

Caenorhabditis elegans        FIL--KRLPLQSVQIYISTALVLAGSAPSLLVLFLRPTEK-

Drosophila                    VVWKLKKHISNDQMALVCIACTLIASLPTNVLLFRRRTNV-

Slime mold                    IIINVKNLFTTDQLIKICLILTLVTMLPLVYGIKRIPKNKF

Baker's yeast                 VFVKYKERFTIQQLQLYSLIATVIGFLPAMIMTLLHPKKH-

Fission yeast                 TVFKIREVFTLHQLQVISLIFTLISILPSCVILFLYPRKR-

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 – 507	Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase
Transmembrane	298 – 318	Helical

Literature citations
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.
Imbach T.; Burda P.; Kuhnert P.; Wevers R.A.; Aebi M.; Berger E.G.; Hennet T.;
Proc. Natl. Acad. Sci. U.S.A. 96:6982-6987(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT CDG1C VAL-333; VARIANT PHE-304; FUNCTION; CATALYTIC ACTIVITY; PATHWAY; SUBCELLULAR LOCATION; Submission
Mao Y.M.; Xie Y.; Zheng Z.H.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT PHE-304; Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT PHE-304; Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT PHE-304; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT PHE-304; Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.
Imbach T.; Gruenewald S.; Schenk B.; Burda P.; Schollen E.; Wevers R.A.; Jaeken J.; de Klerk J.B.C.; Berger E.G.; Matthijs G.; Aebi M.; Hennet T.;
Hum. Genet. 106:538-545(2000)
Cited for: VARIANTS CDG1C VAL-333 AND PRO-478; VARIANT PHE-304; Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic.
Westphal V.; Schottstaedt C.; Marquardt T.; Freeze H.H.;
Mol. Genet. Metab. 70:219-223(2000)
Cited for: VARIANT CDG1C ILE-299 DEL; VARIANT PHE-304; The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic.
Vuillaumier-Barrot S.; Le Bizec C.; Durand G.; Seta N.;
J. Hum. Genet. 46:547-548(2001)
Cited for: VARIANT PHE-304; A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.
Westphal V.; Kjaergaard S.; Schollen E.; Martens K.; Gruenewald S.; Schwartz M.; Matthijs G.; Freeze H.H.;
Hum. Mol. Genet. 11:599-604(2002)
Cited for: CHARACTERIZATION OF VARIANT PHE-304;

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