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UniProtKB/Swiss-Prot P30837: Variant p.Leu107Arg

Aldehyde dehydrogenase X, mitochondrial
Gene: ALDH1B1
Variant information

Variant position:  107
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Leucine (L) to Arginine (R) at position 107 (L107R, p.Leu107Arg).
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 (L) to large size and basic (R)
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:  In allele ALDHA1B1*3.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  107
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  517
The length of the canonical sequence.

Location on the sequence:   FRLGSPWRRMDASERGRLLN  L LADLVERDRVYLASLETLDN
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                         FRLGSPWRRMDASERGRLLNLLADLVERDRVYLASLETLDN

Mouse                         FRLGSPWRRMDASERGRLLNRLADLVERDRVYLASLETLDN

Rat                           FRLGSPWRRMDASERGRLLNRLADLVERDRVYLASLETLDN

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.

TypePositionsDescription
Chain 18 – 517 Aldehyde dehydrogenase X, mitochondrial


Literature citations

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]; VARIANTS ARG-107 AND MET-253;

DNA sequence and analysis of human chromosome 9.
Humphray S.J.; Oliver K.; Hunt A.R.; Plumb R.W.; Loveland J.E.; Howe K.L.; Andrews T.D.; Searle S.; Hunt S.E.; Scott C.E.; Jones M.C.; Ainscough R.; Almeida J.P.; Ambrose K.D.; Ashwell R.I.S.; Babbage A.K.; Babbage S.; Bagguley C.L.; Bailey J.; Banerjee R.; Barker D.J.; Barlow K.F.; Bates K.; Beasley H.; Beasley O.; Bird C.P.; Bray-Allen S.; Brown A.J.; Brown J.Y.; Burford D.; Burrill W.; Burton J.; Carder C.; Carter N.P.; Chapman J.C.; Chen Y.; Clarke G.; Clark S.Y.; Clee C.M.; Clegg S.; Collier R.E.; Corby N.; Crosier M.; Cummings A.T.; Davies J.; Dhami P.; Dunn M.; Dutta I.; Dyer L.W.; Earthrowl M.E.; Faulkner L.; Fleming C.J.; Frankish A.; Frankland J.A.; French L.; Fricker D.G.; Garner P.; Garnett J.; Ghori J.; Gilbert J.G.R.; Glison C.; Grafham D.V.; Gribble S.; Griffiths C.; Griffiths-Jones S.; Grocock R.; Guy J.; Hall R.E.; Hammond S.; Harley J.L.; Harrison E.S.I.; Hart E.A.; Heath P.D.; Henderson C.D.; Hopkins B.L.; Howard P.J.; Howden P.J.; Huckle E.; Johnson C.; Johnson D.; Joy A.A.; Kay M.; Keenan S.; Kershaw J.K.; Kimberley A.M.; King A.; Knights A.; Laird G.K.; Langford C.; Lawlor S.; Leongamornlert D.A.; Leversha M.; Lloyd C.; Lloyd D.M.; Lovell J.; Martin S.; Mashreghi-Mohammadi M.; Matthews L.; McLaren S.; McLay K.E.; McMurray A.; Milne S.; Nickerson T.; Nisbett J.; Nordsiek G.; Pearce A.V.; Peck A.I.; Porter K.M.; Pandian R.; Pelan S.; Phillimore B.; Povey S.; Ramsey Y.; Rand V.; Scharfe M.; Sehra H.K.; Shownkeen R.; Sims S.K.; Skuce C.D.; Smith M.; Steward C.A.; Swarbreck D.; Sycamore N.; Tester J.; Thorpe A.; Tracey A.; Tromans A.; Thomas D.W.; Wall M.; Wallis J.M.; West A.P.; Whitehead S.L.; Willey D.L.; Williams S.A.; Wilming L.; Wray P.W.; Young L.; Ashurst J.L.; Coulson A.; Blocker H.; Durbin R.M.; Sulston J.E.; Hubbard T.; Jackson M.J.; Bentley D.R.; Beck S.; Rogers J.; Dunham I.;
Nature 429:369-374(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT ARG-107;

Diverse polymorphism within a short coding region of the human aldehyde dehydrogenase-5 (ALDH5) gene.
Sherman D.; Dave V.; Hsu L.C.; Peters T.J.; Yoshida A.;
Hum. Genet. 92:477-480(1993)
Cited for: VARIANTS VAL-86 AND ARG-107;

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.