sujigwak/NVAR huggingface dataset:
UniProt ID: Q02094
Variant: G -> R at position 280-280
Variant annotation: in RHN; dbSNP:rs104893987
Protein function: Associated with rhesus blood group antigen expression . May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane . Involved in ammonia transport across the erythrocyte membrane . Seems to act in monovalent cation transport .
Reference sequence:
MRFTFPLMAIVLEIAMIVLFGLFVEYETDQTVLEQLNITKPTDMGIFFELYPLFQDVHVMIFVGFGFLMTFLKKYGFSSVGINLLVAALGLQWGTIVQGILQSQGQKFNIGIKNMINADFSAATVLISFGAVLGKTSPTQMLIMTILEIVFFAHNEYLVSEIFKASDIGASMTIHAFGAYFGLAVAGILYRSGLRKGHENEESAYYSDLFAMIGTLFLWMFWPSFNSAIAEPGDKQCRAIVNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGGVAVGTCADMAIHPFGSMIIGSIAGMVSVLGYKFLTPLFTTKLRIHDTCGVHNLHGLPGVVGGLAGIVAVAMGASNTSMAMQAAALGSSIGTAVVGGLMTGLILKLPLWGQPSDQNCYDDSVYWKVPKTR
UniProt ID: Q02094
Variant: G -> V at position 380-380
Variant annotation: in RHN; dbSNP:rs121918589
Protein function: Associated with rhesus blood group antigen expression . May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane . Involved in ammonia transport across the erythrocyte membrane . Seems to act in monovalent cation transport .
Reference sequence:
MRFTFPLMAIVLEIAMIVLFGLFVEYETDQTVLEQLNITKPTDMGIFFELYPLFQDVHVMIFVGFGFLMTFLKKYGFSSVGINLLVAALGLQWGTIVQGILQSQGQKFNIGIKNMINADFSAATVLISFGAVLGKTSPTQMLIMTILEIVFFAHNEYLVSEIFKASDIGASMTIHAFGAYFGLAVAGILYRSGLRKGHENEESAYYSDLFAMIGTLFLWMFWPSFNSAIAEPGDKQCRAIVNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGGVAVGTCADMAIHPFGSMIIGSIAGMVSVLGYKFLTPLFTTKLRIHDTCGVHNLHGLPGVVGGLAGIVAVAMGASNTSMAMQAAALGSSIGTAVVGGLMTGLILKLPLWGQPSDQNCYDDSVYWKVPKTR
UniProt ID: Q02136
Variant: A -> E at position 38-38
Variant annotation: in strain: IL1403
Protein function: Catalyzes the sequential NAD-dependent oxidations of L-histidinol to L-histidinaldehyde and then to L-histidine.
Reference sequence:
MLKQIDYQGKLEEIAEKFQGRKTEVSKEVNKTVQQIVADIQKNGDTALFNYAKKFDGYDVNTSNLLVTRMEREAGLEQIDEDYFRILRRTKSQIEEFHKHQLGNSWNIFKENGVIMGQIARPLERVALYVPGGTAAYPSTVIMNAVPALLAGVKEIIMITPVKADGKVNPNILAAAEVCGIETIYKVGGAQGVAAVAYGTESIPKVDKIVGPGNIFVATAKKICYGVVDIDMIAGPSEVLVIADKTAKPKYIAADLMAQAEHDKLASAILVTTSEKLVQQVDEELNRQVQNLERREIIESSIRNYGGAIVVKNIDDAFDVSNQLAPEHLEVLTSEPLTQLPKIKNAGSIFIGEYTPEPLGDYMSGSNHVLPTGGTAKFYSGLGVYNFIKYLTYSYYPKEVLADFKEDVETFAKSEGLTAHANSISVRFDEM
UniProt ID: Q02136
Variant: N -> S at position 43-43
Variant annotation: in strain: IL1403
Protein function: Catalyzes the sequential NAD-dependent oxidations of L-histidinol to L-histidinaldehyde and then to L-histidine.
Reference sequence:
MLKQIDYQGKLEEIAEKFQGRKTEVSKEVNKTVQQIVADIQKNGDTALFNYAKKFDGYDVNTSNLLVTRMEREAGLEQIDEDYFRILRRTKSQIEEFHKHQLGNSWNIFKENGVIMGQIARPLERVALYVPGGTAAYPSTVIMNAVPALLAGVKEIIMITPVKADGKVNPNILAAAEVCGIETIYKVGGAQGVAAVAYGTESIPKVDKIVGPGNIFVATAKKICYGVVDIDMIAGPSEVLVIADKTAKPKYIAADLMAQAEHDKLASAILVTTSEKLVQQVDEELNRQVQNLERREIIESSIRNYGGAIVVKNIDDAFDVSNQLAPEHLEVLTSEPLTQLPKIKNAGSIFIGEYTPEPLGDYMSGSNHVLPTGGTAKFYSGLGVYNFIKYLTYSYYPKEVLADFKEDVETFAKSEGLTAHANSISVRFDEM
UniProt ID: Q02136
Variant: R -> P at position 69-69
Variant annotation: in strain: IL1403
Protein function: Catalyzes the sequential NAD-dependent oxidations of L-histidinol to L-histidinaldehyde and then to L-histidine.
Reference sequence:
MLKQIDYQGKLEEIAEKFQGRKTEVSKEVNKTVQQIVADIQKNGDTALFNYAKKFDGYDVNTSNLLVTRMEREAGLEQIDEDYFRILRRTKSQIEEFHKHQLGNSWNIFKENGVIMGQIARPLERVALYVPGGTAAYPSTVIMNAVPALLAGVKEIIMITPVKADGKVNPNILAAAEVCGIETIYKVGGAQGVAAVAYGTESIPKVDKIVGPGNIFVATAKKICYGVVDIDMIAGPSEVLVIADKTAKPKYIAADLMAQAEHDKLASAILVTTSEKLVQQVDEELNRQVQNLERREIIESSIRNYGGAIVVKNIDDAFDVSNQLAPEHLEVLTSEPLTQLPKIKNAGSIFIGEYTPEPLGDYMSGSNHVLPTGGTAKFYSGLGVYNFIKYLTYSYYPKEVLADFKEDVETFAKSEGLTAHANSISVRFDEM
UniProt ID: Q02136
Variant: A -> T at position 74-74
Variant annotation: in strain: IL1403
Protein function: Catalyzes the sequential NAD-dependent oxidations of L-histidinol to L-histidinaldehyde and then to L-histidine.
Reference sequence:
MLKQIDYQGKLEEIAEKFQGRKTEVSKEVNKTVQQIVADIQKNGDTALFNYAKKFDGYDVNTSNLLVTRMEREAGLEQIDEDYFRILRRTKSQIEEFHKHQLGNSWNIFKENGVIMGQIARPLERVALYVPGGTAAYPSTVIMNAVPALLAGVKEIIMITPVKADGKVNPNILAAAEVCGIETIYKVGGAQGVAAVAYGTESIPKVDKIVGPGNIFVATAKKICYGVVDIDMIAGPSEVLVIADKTAKPKYIAADLMAQAEHDKLASAILVTTSEKLVQQVDEELNRQVQNLERREIIESSIRNYGGAIVVKNIDDAFDVSNQLAPEHLEVLTSEPLTQLPKIKNAGSIFIGEYTPEPLGDYMSGSNHVLPTGGTAKFYSGLGVYNFIKYLTYSYYPKEVLADFKEDVETFAKSEGLTAHANSISVRFDEM
UniProt ID: Q02136
Variant: A -> T at position 164-164
Variant annotation: in strain: IL1403
Protein function: Catalyzes the sequential NAD-dependent oxidations of L-histidinol to L-histidinaldehyde and then to L-histidine.
Reference sequence:
MLKQIDYQGKLEEIAEKFQGRKTEVSKEVNKTVQQIVADIQKNGDTALFNYAKKFDGYDVNTSNLLVTRMEREAGLEQIDEDYFRILRRTKSQIEEFHKHQLGNSWNIFKENGVIMGQIARPLERVALYVPGGTAAYPSTVIMNAVPALLAGVKEIIMITPVKADGKVNPNILAAAEVCGIETIYKVGGAQGVAAVAYGTESIPKVDKIVGPGNIFVATAKKICYGVVDIDMIAGPSEVLVIADKTAKPKYIAADLMAQAEHDKLASAILVTTSEKLVQQVDEELNRQVQNLERREIIESSIRNYGGAIVVKNIDDAFDVSNQLAPEHLEVLTSEPLTQLPKIKNAGSIFIGEYTPEPLGDYMSGSNHVLPTGGTAKFYSGLGVYNFIKYLTYSYYPKEVLADFKEDVETFAKSEGLTAHANSISVRFDEM
UniProt ID: Q02136
Variant: K -> E at position 245-245
Variant annotation: in strain: IL1403
Protein function: Catalyzes the sequential NAD-dependent oxidations of L-histidinol to L-histidinaldehyde and then to L-histidine.
Reference sequence:
MLKQIDYQGKLEEIAEKFQGRKTEVSKEVNKTVQQIVADIQKNGDTALFNYAKKFDGYDVNTSNLLVTRMEREAGLEQIDEDYFRILRRTKSQIEEFHKHQLGNSWNIFKENGVIMGQIARPLERVALYVPGGTAAYPSTVIMNAVPALLAGVKEIIMITPVKADGKVNPNILAAAEVCGIETIYKVGGAQGVAAVAYGTESIPKVDKIVGPGNIFVATAKKICYGVVDIDMIAGPSEVLVIADKTAKPKYIAADLMAQAEHDKLASAILVTTSEKLVQQVDEELNRQVQNLERREIIESSIRNYGGAIVVKNIDDAFDVSNQLAPEHLEVLTSEPLTQLPKIKNAGSIFIGEYTPEPLGDYMSGSNHVLPTGGTAKFYSGLGVYNFIKYLTYSYYPKEVLADFKEDVETFAKSEGLTAHANSISVRFDEM
UniProt ID: Q02136
Variant: K -> N at position 248-248
Variant annotation: in strain: IL1403
Protein function: Catalyzes the sequential NAD-dependent oxidations of L-histidinol to L-histidinaldehyde and then to L-histidine.
Reference sequence:
MLKQIDYQGKLEEIAEKFQGRKTEVSKEVNKTVQQIVADIQKNGDTALFNYAKKFDGYDVNTSNLLVTRMEREAGLEQIDEDYFRILRRTKSQIEEFHKHQLGNSWNIFKENGVIMGQIARPLERVALYVPGGTAAYPSTVIMNAVPALLAGVKEIIMITPVKADGKVNPNILAAAEVCGIETIYKVGGAQGVAAVAYGTESIPKVDKIVGPGNIFVATAKKICYGVVDIDMIAGPSEVLVIADKTAKPKYIAADLMAQAEHDKLASAILVTTSEKLVQQVDEELNRQVQNLERREIIESSIRNYGGAIVVKNIDDAFDVSNQLAPEHLEVLTSEPLTQLPKIKNAGSIFIGEYTPEPLGDYMSGSNHVLPTGGTAKFYSGLGVYNFIKYLTYSYYPKEVLADFKEDVETFAKSEGLTAHANSISVRFDEM
UniProt ID: Q02136
Variant: R -> S at position 295-295
Variant annotation: in strain: IL1403
Protein function: Catalyzes the sequential NAD-dependent oxidations of L-histidinol to L-histidinaldehyde and then to L-histidine.
Reference sequence:
MLKQIDYQGKLEEIAEKFQGRKTEVSKEVNKTVQQIVADIQKNGDTALFNYAKKFDGYDVNTSNLLVTRMEREAGLEQIDEDYFRILRRTKSQIEEFHKHQLGNSWNIFKENGVIMGQIARPLERVALYVPGGTAAYPSTVIMNAVPALLAGVKEIIMITPVKADGKVNPNILAAAEVCGIETIYKVGGAQGVAAVAYGTESIPKVDKIVGPGNIFVATAKKICYGVVDIDMIAGPSEVLVIADKTAKPKYIAADLMAQAEHDKLASAILVTTSEKLVQQVDEELNRQVQNLERREIIESSIRNYGGAIVVKNIDDAFDVSNQLAPEHLEVLTSEPLTQLPKIKNAGSIFIGEYTPEPLGDYMSGSNHVLPTGGTAKFYSGLGVYNFIKYLTYSYYPKEVLADFKEDVETFAKSEGLTAHANSISVRFDEM
UniProt ID: Q02136
Variant: SIR -> YIS at position 301-303
Variant annotation: in strain: IL1403
Protein function: Catalyzes the sequential NAD-dependent oxidations of L-histidinol to L-histidinaldehyde and then to L-histidine.
Reference sequence:
MLKQIDYQGKLEEIAEKFQGRKTEVSKEVNKTVQQIVADIQKNGDTALFNYAKKFDGYDVNTSNLLVTRMEREAGLEQIDEDYFRILRRTKSQIEEFHKHQLGNSWNIFKENGVIMGQIARPLERVALYVPGGTAAYPSTVIMNAVPALLAGVKEIIMITPVKADGKVNPNILAAAEVCGIETIYKVGGAQGVAAVAYGTESIPKVDKIVGPGNIFVATAKKICYGVVDIDMIAGPSEVLVIADKTAKPKYIAADLMAQAEHDKLASAILVTTSEKLVQQVDEELNRQVQNLERREIIESSIRNYGGAIVVKNIDDAFDVSNQLAPEHLEVLTSEPLTQLPKIKNAGSIFIGEYTPEPLGDYMSGSNHVLPTGGTAKFYSGLGVYNFIKYLTYSYYPKEVLADFKEDVETFAKSEGLTAHANSISVRFDEM
UniProt ID: Q02136
Variant: D -> E at position 316-316
Variant annotation: in strain: IL1403
Protein function: Catalyzes the sequential NAD-dependent oxidations of L-histidinol to L-histidinaldehyde and then to L-histidine.
Reference sequence:
MLKQIDYQGKLEEIAEKFQGRKTEVSKEVNKTVQQIVADIQKNGDTALFNYAKKFDGYDVNTSNLLVTRMEREAGLEQIDEDYFRILRRTKSQIEEFHKHQLGNSWNIFKENGVIMGQIARPLERVALYVPGGTAAYPSTVIMNAVPALLAGVKEIIMITPVKADGKVNPNILAAAEVCGIETIYKVGGAQGVAAVAYGTESIPKVDKIVGPGNIFVATAKKICYGVVDIDMIAGPSEVLVIADKTAKPKYIAADLMAQAEHDKLASAILVTTSEKLVQQVDEELNRQVQNLERREIIESSIRNYGGAIVVKNIDDAFDVSNQLAPEHLEVLTSEPLTQLPKIKNAGSIFIGEYTPEPLGDYMSGSNHVLPTGGTAKFYSGLGVYNFIKYLTYSYYPKEVLADFKEDVETFAKSEGLTAHANSISVRFDEM
UniProt ID: Q02136
Variant: D -> A at position 403-403
Variant annotation: in strain: IL1403
Protein function: Catalyzes the sequential NAD-dependent oxidations of L-histidinol to L-histidinaldehyde and then to L-histidine.
Reference sequence:
MLKQIDYQGKLEEIAEKFQGRKTEVSKEVNKTVQQIVADIQKNGDTALFNYAKKFDGYDVNTSNLLVTRMEREAGLEQIDEDYFRILRRTKSQIEEFHKHQLGNSWNIFKENGVIMGQIARPLERVALYVPGGTAAYPSTVIMNAVPALLAGVKEIIMITPVKADGKVNPNILAAAEVCGIETIYKVGGAQGVAAVAYGTESIPKVDKIVGPGNIFVATAKKICYGVVDIDMIAGPSEVLVIADKTAKPKYIAADLMAQAEHDKLASAILVTTSEKLVQQVDEELNRQVQNLERREIIESSIRNYGGAIVVKNIDDAFDVSNQLAPEHLEVLTSEPLTQLPKIKNAGSIFIGEYTPEPLGDYMSGSNHVLPTGGTAKFYSGLGVYNFIKYLTYSYYPKEVLADFKEDVETFAKSEGLTAHANSISVRFDEM
UniProt ID: Q02161
Variant: S -> C at position 3-3
Variant annotation: may be associated with low RHD expression, resulting in a weak D phenotype; dbSNP:rs144969459
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF
UniProt ID: Q02161
Variant: R -> Q at position 10-10
Variant annotation: may be associated with low RHD expression, resulting in a weak D phenotype; dbSNP:rs768456998
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF
UniProt ID: Q02161
Variant: W -> C at position 16-16
Variant annotation: in dbSNP:rs772865539
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF
UniProt ID: Q02161
Variant: S -> C at position 103-103
Variant annotation: in a breast cancer sample; somatic mutation
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF
UniProt ID: Q02161
Variant: L -> P at position 110-110
Variant annotation: in Tar antigen; dbSNP:rs121912762
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF
UniProt ID: Q02161
Variant: A -> D at position 149-149
Variant annotation: may be associated with low RHD expression, resulting in a weak D phenotype; dbSNP:rs775336070
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF
UniProt ID: Q02161
Variant: S -> T at position 182-182
Variant annotation: may be associated with low RHD expression, resulting in a weak D phenotype; dbSNP:rs17421158
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF
UniProt ID: Q02161
Variant: E -> K at position 193-193
Variant annotation: in dbSNP:rs1053352
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF
UniProt ID: Q02161
Variant: K -> N at position 198-198
Variant annotation: may be associated with low RHD expression, resulting in a weak D phenotype; dbSNP:rs569974439
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF
UniProt ID: Q02161
Variant: T -> R at position 201-201
Variant annotation: may be associated with low RHD expression, resulting in a weak D phenotype; dbSNP:rs1053355
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF
UniProt ID: Q02161
Variant: M -> I at position 218-218
Variant annotation: in dbSNP:rs141540728
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF
UniProt ID: Q02161
Variant: W -> R at position 220-220
Variant annotation: may be associated with low RHD expression, resulting in a weak D phenotype
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF
UniProt ID: Q02161
Variant: F -> V at position 223-223
Variant annotation: found in RhDVa(FK) and RhDVa(TT); may be associated with low RHD expression, resulting in a weak D phenotype; dbSNP:rs1053356
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF
UniProt ID: Q02161
Variant: E -> Q at position 233-233
Variant annotation: found in RhDVa(FK), RhDVa(TO), RhDVa(TT) and RhDYo; dbSNP:rs1053359
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF
UniProt ID: Q02161
Variant: V -> M at position 238-238
Variant annotation: found in RhDVa(TO) and RhDVa(TT); dbSNP:rs1053360
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF
UniProt ID: Q02161
Variant: V -> L at position 245-245
Variant annotation: found in RhDVa(TT); dbSNP:rs150073306
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF
UniProt ID: Q02161
Variant: G -> R at position 263-263
Variant annotation: in dbSNP:rs3118454
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF
UniProt ID: Q02161
Variant: V -> G at position 270-270
Variant annotation: may be associated with low RHD expression, resulting in a weak D phenotype; dbSNP:rs121912763
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF
UniProt ID: Q02161
Variant: A -> P at position 276-276
Variant annotation: may be associated with low RHD expression, resulting in a weak D phenotype
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF
UniProt ID: Q02161
Variant: G -> E at position 277-277
Variant annotation: may be associated with low RHD expression, resulting in a weak D phenotype; dbSNP:rs1557543876
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF
UniProt ID: Q02161
Variant: G -> D at position 282-282
Variant annotation: may be associated with low RHD expression, resulting in a weak D phenotype; dbSNP:rs142484009
Protein function: May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane.
Reference sequence:
MSSKYPRSVRRCLPLWALTLEAALILLFYFFTHYDASLEDQKGLVASYQVGQDLTVMAAIGLGFLTSSFRRHSWSSVAFNLFMLALGVQWAILLDGFLSQFPSGKVVITLFSIRLATMSALSVLISVDAVLGKVNLAQLVVMVLVEVTALGNLRMVISNIFNTDYHMNMMHIYVFAAYFGLSVAWCLPKPLPEGTEDKDQTATIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYYAVAVSVVTAISGSSLAHPQGKISKTYVHSAVLAGGVAVGTSCHLIPSPWLAMVLGLVAGLISVGGAKYLPGCCNRVLGIPHSSIMGYNFSLLGLLGEIIYIVLLVLDTVGAGNGMIGFQVLLSIGELSLAIVIALMSGLLTGLLLNLKIWKAPHEAKYFDDQVFWKFPHLAVGF