HPMV: sp|O75695|XRP2_HUMAN Protein XRP2 OS=Homo sapiens GN=RP2 PE=1 SV=4

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Mutation p.Ser6del could potentially affect protein function. The mutation p.Ser6del is likely to have eliminated the myristoylation site that was present in the wildtype.

Feature Tree
▼ Query Mutations

User specified mutations of interest - differences between
the query protein and the wildtype reference protein.

▼ 6 p.Ser6del could potentially affect protein function.
▼ p.Ser6del could potentially affect N-term N-myristoylation

The mutation p.Ser6del is likely to have eliminated the
myristoylation site that was present in the wildtype.

wt : 2 [ 2 18] MyrPS/NMT score=3.587 quality=RELIABLE
mut: absent
▼ Known Variants

Known sequence variants from UniProt.
Red: specific annotation - usually disease variant.
Blue: dbSNP variant - without additional annotation.
Green: no information available.

▼ 144 K->R In dbSNP:rs3126141.
▼ 144 ( 144) K->R UniProt Natural Variant: In dbSNP:rs3126141.
▼ 338 D->Y In dbSNP:rs1805148.
▼ 338 ( 338) D->Y UniProt Natural Variant: In dbSNP:rs1805148.
▼ 6 .->. In RP2; loss of membrane association; enhances interaction with ARL3.
▼ 6 ( 6) .->. UniProt Natural Variant: In RP2; loss of membrane association; enhances interaction with ARL3.
▼ 67 C->Y In RP2.
▼ 67 ( 67) C->Y UniProt Natural Variant: In RP2.
▼ 86 C->Y In RP2.
▼ 86 ( 86) C->Y UniProt Natural Variant: In RP2.
▼ 95 P->L In RP2; uncertain pathological significance.
▼ 95 ( 95) P->L UniProt Natural Variant: In RP2; uncertain pathological significance.
▼ 108 complex variants
▼ 108 ( 108) C->G UniProt Natural Variant: In RP2.
▼ 108 ( 108) C->Y UniProt Natural Variant: In RP2.
▼ 118 complex variants
▼ 118 ( 118) R->C UniProt Natural Variant: In RP2.
▼ 118 ( 118) R->H UniProt Natural Variant: In RP2; reduces affinity for ARL3 800-fold; loss of stimulation of tubulin GTPase activity; no effect on subcellular location.
▼ 118 ( 118) R->L UniProt Natural Variant: In RP2; dbSNP:rs28933687.
▼ 137 .->. In RP2.
▼ 137 ( 137) .->. UniProt Natural Variant: In RP2.
▼ 138 E->G In RP2; reduces affinity for ARL3 150-fold and inhibits the GTP-hydrolysis rate of ARL3.
▼ 138 ( 138) E->G UniProt Natural Variant: In RP2; reduces affinity for ARL3 150-fold and inhibits the GTP-hydrolysis rate of ARL3.
▼ 188 L->P In RP2.
▼ 188 ( 188) L->P UniProt Natural Variant: In RP2.
▼ 253 L->R In RP2.
▼ 253 ( 253) L->R UniProt Natural Variant: In RP2.
▼ 282 R->W Might play a role in retinitis pigmentosa 2; reduces affinity for ARL3 3-fold; dbSNP:rs1805147.
▼ 282 ( 282) R->W UniProt Natural Variant: Might play a role in retinitis pigmentosa 2; reduces affinity for ARL3 3-fold; dbSNP:rs1805147.
▼ Targeting Signals & Post-Translational Modifications

Targeting signals, post-translational modifications (PTMs)
and coiled-coil and transmembrane segments.

▼ 2 [ 2 18] N-term N-myristoylation

Directs and anchors proteins to membranes: involved in
translocation, signal transduction and even apoptosis.
Mutation disrupting motif are potentially significant.

  2 [ 2 18] MyrPS/NMT score=3.587 quality=RELIABLE
▼ Non-Globular Regions (Compositional Bias)

Non-globular features relating to sequence composition including
charge clusters, low complexity regions and disordered regions.

This protein has no Non-Globular Regions (Compositional Bias).

▼ Conserved Domains

Conserved domains with significant similarity to the query.

▼ 59 177 PF07986.8 TBCC Tubulin binding cofactor C D

Members of this family are involved in the folding pathway of
tubulins and form a beta helix structure [2].
HMM-range=1-120 HMM-length=120

  59 177 HMMER3 E-value=1.1E-49
(max 30 seqs)
▼ 59 134 PF08603.7 CAP_C Adenylate cyclase associated (CAP) C terminal F

HMM-range=31-111 HMM-length=157

  59 134 HMMER3 E-value=1.2E-9
(max 30 seqs)
▼ 3D Structures

PDB structures with significant similarity to the query sequence.

▼ 1 350 3bh7_B Protein XRP2

PDB-range=3-352 PDB-length=352

  1 350 ssearchE-value=1.2E-174
▼ 42 192 2yuh_A Tubulin-specific chaperone C

PDB-range=13-166 PDB-length=179

  42 192 ssearchE-value=6.1E-20
▼ 71 171 5aj8_A TUBULIN BINDING COFACTOR C

PDB-range=20-119 PDB-length=187

  71 171 ssearchE-value=7.3E-12
▼ Sequence Information

Information relating to sequence residues.

▼ 1 350 Individual Residues

Information relating to each individual residue.

  1 M
  2 G
  3 C
  4 F
  5 F
  6 S
  7 K
  8 R
  9 R
  10 K
  11 A
  12 D
  13 K
  14 E
  15 S
  16 R
  17 P
  18 E
  19 N
  20 E
  21 E
  22 E
  23 R
  24 P
  25 K
  26 Q
  27 Y
  28 S
  29 W
  30 D
  31 Q
  32 R
  33 E
  34 K
  35 V
  36 D
  37 P
  38 K
  39 D
  40 Y
  41 M
  42 F
  43 S
  44 G
  45 L
  46 K
  47 D
  48 E
  49 T
  50 V
  51 G
  52 R
  53 L
  54 P
  55 G
  56 T
  57 V
  58 A
  59 G
  60 Q
  61 Q
  62 F
  63 L
  64 I
  65 Q
  66 D
  67 C
  68 E
  69 N
  70 C
  71 N
  72 I
  73 Y
  74 I
  75 F
  76 D
  77 H
  78 S
  79 A
  80 T
  81 V
  82 T
  83 I
  84 D
  85 D
  86 C
  87 T
  88 N
  89 C
  90 I
  91 I
  92 F
  93 L
  94 G
  95 P
  96 V
  97 K
  98 G
  99 S
  100 V
  101 F
  102 F
  103 R
  104 N
  105 C
  106 R
  107 D
  108 C
  109 K
  110 C
  111 T
  112 L
  113 A
  114 C
  115 Q
  116 Q
  117 F
  118 R
  119 V
  120 R
  121 D
  122 C
  123 R
  124 K
  125 L
  126 E
  127 V
  128 F
  129 L
  130 C
  131 C
  132 A
  133 T
  134 Q
  135 P
  136 I
  137 I
  138 E
  139 S
  140 S
  141 S
  142 N
  143 I
  144 K
  145 F
  146 G
  147 C
  148 F
  149 Q
  150 W
  151 Y
  152 Y
  153 P
  154 E
  155 L
  156 A
  157 F
  158 Q
  159 F
  160 K
  161 D
  162 A
  163 G
  164 L
  165 S
  166 I
  167 F
  168 N
  169 N
  170 T
  171 W
  172 S
  173 N
  174 I
  175 H
  176 D
  177 F
  178 T
  179 P
  180 V
  181 S
  182 G
  183 E
  184 L
  185 N
  186 W
  187 S
  188 L
  189 L
  190 P
  191 E
  192 D
  193 A
  194 V
  195 V
  196 Q
  197 D
  198 Y
  199 V
  200 P
  201 I
  202 P
  203 T
  204 T
  205 E
  206 E
  207 L
  208 K
  209 A
  210 V
  211 R
  212 V
  213 S
  214 T
  215 E
  216 A
  217 N
  218 R
  219 S
  220 I
  221 V
  222 P
  223 I
  224 S
  225 R
  226 G
  227 Q
  228 R
  229 Q
  230 K
  231 S
  232 S
  233 D
  234 E
  235 S
  236 C
  237 L
  238 V
  239 V
  240 L
  241 F
  242 A
  243 G
  244 D
  245 Y
  246 T
  247 I
  248 A
  249 N
  250 A
  251 R
  252 K
  253 L
  254 I
  255 D
  256 E
  257 M
  258 V
  259 G
  260 K
  261 G
  262 F
  263 F
  264 L
  265 V
  266 Q
  267 T
  268 K
  269 E
  270 V
  271 S
  272 M
  273 K
  274 A
  275 E
  276 D
  277 A
  278 Q
  279 R
  280 V
  281 F
  282 R
  283 E
  284 K
  285 A
  286 P
  287 D
  288 F
  289 L
  290 P
  291 L
  292 L
  293 N
  294 K
  295 G
  296 P
  297 V
  298 I
  299 A
  300 L
  301 E
  302 F
  303 N
  304 G
  305 D
  306 G
  307 A
  308 V
  309 E
  310 V
  311 C
  312 Q
  313 L
  314 I
  315 V
  316 N
  317 E
  318 I
  319 F
  320 N
  321 G
  322 T
  323 K
  324 M
  325 F
  326 V
  327 S
  328 E
  329 S
  330 K
  331 E
  332 T
  333 A
  334 S
  335 G
  336 D
  337 V
  338 D
  339 S
  340 F
  341 Y
  342 N
  343 F
  344 A
  345 D
  346 I
  347 Q
  348 M
  349 G
  350 I

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