Biased nsSNPs in Sunyaev dataset.  Original dataset downloaded from http://www.bork.embl-heidelberg.de/SNPs
 
| Protein
  ID | Protein | Position | Old aa | New aa | Reason
  for judging nsSNP as biased  | 
| HLA | |||||
| P16188 | HLA
  class I | 176 | W | R | structure
  shows it is peptide-binding groove | 
| P10314 | HLA
  class I | 180 | L | Q | structure
  shows it is in peptide-binding groove  | 
| P01892 | HLA
  class I | 121 | R | M | maps to
  floor of peptide-binding groove.  | 
| P01892 | HLA
  class I | 176 | V | E | maps to
  peptide-binding groove | 
| P01892 | HLA
  class I | 33 | F | Y | floor of
  peptide binding groove, facing antigen | 
| P01892 | HLA
  class I | 180 | L | Q | structure
  shows it is in peptide-binding groove  | 
| P01892 | HLA
  class I | 260 | A | E | at
  interface between alpha and beta chain. | 
| P01891 | HLA
  class I | 138 | H | R | floor of
  peptide-binding groove  | 
| P16188 | HLA
  class I | 180 | L | W | in
  peptide-binding groove | 
| P01891 | HLA
  class I | 140 | Y | D | floor of
  peptide binnding groove  | 
| P30512 | HLA
  class I | 126 | H | D | on floor
  of peptide binding groove but AWAY from groove (but not crystallized with
  antigen) | 
| P30457 | HLA
  class I | 28 | S | W | floor of
  peptide binding groove but residue is facing AWAY from groove.  | 
| P30450 | HLA
  class I | 140 | D | N | amino
  acid in and facing peptide groove | 
| P04439 | HLA
  class I | 181 | E | V | amino
  acid in peptide-binding cleft and facing inwards | 
| P01892 | HLA
  class I | 90 | K | N | maps to
  peptide-binding groove  | 
| P30453 | HLA
  class I | 138 | Q | R | maps to
  peptide binding groove and facing in towards antigen | 
| P30453 | HLA
  class I | 121 | R | I | maps to
  peptide-binding groove and facing inwards | 
| P01891 | HLA
  class I | 121 | R | M | maps to
  peptide biinding groove and facing towards antigen | 
| Variant first found in disease individual | |||||
| P15154 | rac1 | 93 | V | G | Oncogene
  19(26)3013-20, mutations could have come from cancer cells (and the protein
  is a tumor suppressor) | 
| P15154 | rac1 | 44 | V | A | Oncogene
  19(26)3013-20, mutations could have come from cancer cells (and the protein
  is a tumor suppressor) | 
| P15154 | rac1 | 59 | A | T | Oncogene
  19(26)3013-3020 could have come from cancer cells | 
| P15154 | rac1 | 63 | D | G | Oncogene;
  19(26)3013-20 mutations could have come from cancer cells | 
| P15154 | rac1 | 98 | Y | C | Oncogene
  19(26)3013-20 mutations could have come from cancer cells | 
| P21181 | G25K,
  a GTP-binding protein | 14 | V | A | Some
  kind of discrepancy here. Sunyaev has this as belonging to P21181, but
  according to HGBASE, this is in rac1 from cancer cells (Oncogene 19:3013-20). | 
| P02042 | hemoglobin
  delta | 141 | L | P | from
  Greek Cypriot families suspected of having delta-thalassemia | 
| P02042 | hemoglobin
  delta | 24 | G | D | identified
  in a patient with beta-thalassemia | 
| P02042 | hemoglobin
  delta | 98 | V | M | sequenced
  a black male who had HPFH  | 
| P02042 | hemoglobin
  delta | 116 | R | C | Blood
  1991 78(12):3298-305 from families suspected of having delta-thalassemia | 
| P02042 | hemoglobin
  delta | 99 | D | N | found
  in beta-thalassema patient | 
| P06276 | cholinesterase | 98 | D | G | PNAS
  86:953-7 Pharmacogenetics:Hereditary & Response to Drugs Kalow (1966)
  p.69 first identified in patients with low cholinesterase activity | 
| P15559 | NADPH
  dehydrogenase | 187 | P | S | Associated
  with lung cancer | 
| P11387 | DNA
  topoisomerase I | 533 | D | G | NAR
  19:69-75- not found in a natural population. Leukemia cell line -> CPT
  resistant line (CPT-K5) , sequenced | 
| P05062 | fructose-bisphosphate
  aldolase b | 149 | A | P | found
  in individual with hereditary fructose intolerance | 
| O75931 | Immune-hemochromatosis
  splice variant | 180 | C | Y | Nat.
  Genet 13:399- positional cloning approach 85% of paitents. Associated w/
  hemochromatosis | 
| P01011 | alpha-1
  anitichymotrypsin | 78 | L | P | German
  family with COPD | 
| In vitro mutagenesis | |||||
| P03372 | estrogen
  receptor | 447 | C | A | Journal
  of Biol Chem 199 June 15 266(17):10880-7 from an in vitro mutagenesis study | 
| P03372 | estrogen
  receptor | 400 | G | V | EMBO
  J Vol 8 1981-1986 -- clone artefactual point mutation | 
| P03372 | estrogen
  receptor | 364 | V | E | V364E
  Mol Endocriinology 1996 Dec 10(12):1519-26 regional chemical mutagenesis |