HPMV: sp|P35913|PDE6B_HUMAN Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta OS=Homo sapiens GN=PDE6B PE=1 SV=2

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Mutation L854V could potentially affect protein function. The mutation L854V is likely to have eliminated the GGT1 prenylation 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.

▼ 854 L854V (p.Leu854Val) could potentially affect protein function.
▼ L854V is less likely to affect Prenylation (FT)

The mutation L854V is less likely to have affected the farnesyl prenylation
site because it is predicted in both wildtype and mutant.

wt : 851 [ 840 854] PrePS-FT score=1.087
mut: 851 [ 840 854] PrePS-FT score=0.821
▼ L854V could potentially affect Prenylation (GGT1)

The mutation L854V is likely to have eliminated the
GGT1 prenylation site that was present in the wildtype.

wt : 851 [ 840 854] PrePS-GGT1 score=3.023
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.

▼ 166 E->K In dbSNP:rs115775983.
▼ 166 ( 166) E->K UniProt Natural Variant: In dbSNP:rs115775983.
▼ 320 V->I In dbSNP:rs10902758.
▼ 320 ( 320) V->I UniProt Natural Variant: In dbSNP:rs10902758.
▼ 654 E->D In dbSNP:rs17849286.
▼ 654 ( 654) E->D UniProt Natural Variant: In dbSNP:rs17849286.
▼ 74 R->C In RP40; autosomal recessive.
▼ 74 ( 74) R->C UniProt Natural Variant: In RP40; autosomal recessive.
▼ 100 R->H In RP40.
▼ 100 ( 100) R->H UniProt Natural Variant: In RP40.
▼ 219 Y->H In RP40; autosomal recessive; dbSNP:rs62295357.
▼ 219 ( 219) Y->H UniProt Natural Variant: In RP40; autosomal recessive; dbSNP:rs62295357.
▼ 228 L->H In RP40; autosomal recessive and autosomal dominant.
▼ 228 ( 228) L->H UniProt Natural Variant: In RP40; autosomal recessive and autosomal dominant.
▼ 258 H->N In CSNBAD2.
▼ 258 ( 258) H->N UniProt Natural Variant: In CSNBAD2.
▼ 527 L->P In RP40; autosomal recessive.
▼ 527 ( 527) L->P UniProt Natural Variant: In RP40; autosomal recessive.
▼ 535 I->N In RP40; autosomal recessive.
▼ 535 ( 535) I->N UniProt Natural Variant: In RP40; autosomal recessive.
▼ 552 R->Q In RP40; autosomal recessive.
▼ 552 ( 552) R->Q UniProt Natural Variant: In RP40; autosomal recessive.
▼ 557 H->Y In RP40; autosomal dominant.
▼ 557 ( 557) H->Y UniProt Natural Variant: In RP40; autosomal dominant.
▼ 576 G->D In RP40; autosomal recessive.
▼ 576 ( 576) G->D UniProt Natural Variant: In RP40; autosomal recessive.
▼ 699 L->R In RP40; autosomal recessive.
▼ 699 ( 699) L->R UniProt Natural Variant: In RP40; autosomal recessive.
▼ 776 D->N In RP40; dbSNP:rs141563823.
▼ 776 ( 776) D->N UniProt Natural Variant: In RP40; dbSNP:rs141563823.
▼ 854 L->R In RP40; autosomal recessive.
▼ 854 ( 854) L->R UniProt Natural Variant: In RP40; autosomal recessive.
▼ 212 Y->H
▼ 212 ( 212) Y->H UniProt Natural Variant:
▼ 228 L->I
▼ 228 ( 228) L->I UniProt Natural Variant:
▼ Targeting Signals & Post-Translational Modifications

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

▼ 796 835 Coiled-Coil

Alpha-helices packed together in dimers, trimers, or tetramers.
Heptade repeat sequence: hydrophobic at 1st and 4th positions.
Generally too large to be affected by single mutations.

  796 835 IMP-COIL
▼ 2 Modified Residue: N-acetylserine

Residue with post-translational covalent modification.
Mutations potentially significant when modifications when
modifications have important function.

▼ 2 ( 2) S UniProt Modified Residue: N-acetylserine evidence=2
▼ 851 [ 840 854] Prenylation (FT)

Prenylation by farnesyltransferase enzyme.
Posttranslational modification with farnesyl anchor.
Mediate protein-membrane and protein-protein interactions.
Sequence motif is CaaX-box in the C-terminus of protein.
Mutation of cysteine or motif potentially significant.

  851 [ 840 854] PrePS-FT score=1.087
▼ 851 [ 840 854] Prenylation (GGT1)

Prenylation with geranylgeranyltransferase-1 enzyme.
PTM with geranylgeranyl (20 carbon polyisopren) anchor.
Sequence motif is CaaX-box in the C-terminus.
Mutation of cysteine or motif potentially significant.

  851 [ 840 854] PrePS-GGT1 score=3.023
▼ 656 673 Transmembrane

Can be single anchor or multipass integral membrane protein.
Can be simple (general hydrophobic composition) or complex.
Single hydrophobic substitutions may be tolerated but
deletion of entire helix would be potentially significant.

  656 673 Phobius TRANSMEN
▼ Non-Globular Regions (Compositional Bias)

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

▼ 805 835 Low Complexity

Regions that have a compositional bias (non-random composition).
They are common in natural sequences and are associated with
disordered and fibrillar regions (i.e. non-globular regions).
The precise order of the amino acids is less important.
These regions are generally less sensitve to mutations.

  813 835 SEG [12/2.5/2.2] complexity=2.42
  805 834 SEG [25/3.3/3.0] complexity=2.65
▼ Conserved Domains

Conserved domains with significant similarity to the query.

▼ 71 208 PF13185.2 GAF_2 GAF domain D

HMM-range=3-126 HMM-length=139

  71 208 HMMER3 E-value=3.4E-12
(max 30 seqs)
▼ 71 209 PF01590.22 GAF GAF domain D

This domain is present in cGMP-specific phosphodiesterases, adenylyl
and guanylyl cyclases, phytochromes, FhlA and NifA. Adenylyl
and guanylyl cyclases catalyse ATP and GTP to the second messengers
cAMP and cGMP, respectively, these products up-regulating catalytic
activity by binding to the regulatory GAF domain(s). The opposite
hydrolysis reaction is catalysed by phosphodiesterase. cGMP-dependent
3',5'-cyclic phosphodiesterase catalyses the conversion of guanosine
3',5'-cyclic phosphate to guanosine 5'-phosphate. Here too,
cGMP regulates catalytic activity by GAF-domain binding. Phytochromes
are regulatory photoreceptors in plants and bacteria which exist
in two thermally-stable states that are reversibly inter-convertible
by light: the Pr state absorbs maximally in the red region of
the spectrum, while the Pfr state absorbs maximally in the far-red
region. This domain is also found in FhlA (formate hydrogen
lyase transcriptional activator) and NifA, a transcriptional
activator which is required for activation of most Nif operons
which are directly involved in nitrogen fixation. NifA interacts
with sigma-54.
HMM-range=1-119 HMM-length=130

  71 209 HMMER3 E-value=1.0E-17
(max 30 seqs)
▼ 72 208 PF13492.2 GAF_3 GAF domain D

HMM-range=2-115 HMM-length=129

  72 208 HMMER3 E-value=5.8E-5
(max 30 seqs)
▼ 252 428 PF01590.22 GAF GAF domain D

This domain is present in cGMP-specific phosphodiesterases, adenylyl
and guanylyl cyclases, phytochromes, FhlA and NifA. Adenylyl
and guanylyl cyclases catalyse ATP and GTP to the second messengers
cAMP and cGMP, respectively, these products up-regulating catalytic
activity by binding to the regulatory GAF domain(s). The opposite
hydrolysis reaction is catalysed by phosphodiesterase. cGMP-dependent
3',5'-cyclic phosphodiesterase catalyses the conversion of guanosine
3',5'-cyclic phosphate to guanosine 5'-phosphate. Here too,
cGMP regulates catalytic activity by GAF-domain binding. Phytochromes
are regulatory photoreceptors in plants and bacteria which exist
in two thermally-stable states that are reversibly inter-convertible
by light: the Pr state absorbs maximally in the red region of
the spectrum, while the Pfr state absorbs maximally in the far-red
region. This domain is also found in FhlA (formate hydrogen
lyase transcriptional activator) and NifA, a transcriptional
activator which is required for activation of most Nif operons
which are directly involved in nitrogen fixation. NifA interacts
with sigma-54.
HMM-range=1-129 HMM-length=130

  252 428 HMMER3 E-value=8.1E-16
(max 30 seqs)
▼ 338 426 PF13492.2 GAF_3 GAF domain D

HMM-range=59-124 HMM-length=129

  338 426 HMMER3 E-value=5.9E-7
(max 30 seqs)
▼ 339 426 PF13185.2 GAF_2 GAF domain D

HMM-range=54-135 HMM-length=139

  339 426 HMMER3 E-value=9.6E-7
(max 30 seqs)
▼ 556 801 PF00233.15 PDEase_I 3'5'-cyclic nucleotide phosphodiesterase D

HMM-range=1-231 HMM-length=231

  556 801 HMMER3 E-value=6.6E-81
(max 30 seqs)
▼ 3D Structures

PDB structures with significant similarity to the query sequence.

▼ 41 815 3bjc_A cGMP-specific 3',5'-cyclic phosphodiesterase

PDB-range=141-864 PDB-length=878

  41 815 ssearchE-value=1.1E-93
▼ 52 229 3dba_A Cone cGMP-specific 3',5'-cyclic phosphodieste

PDB-range=2-180 PDB-length=180

  52 229 ssearchE-value=2.0E-38
▼ 52 231 2zmf_A cAMP and cAMP-inhibited cGMP 3',5'-cyclic pho

PDB-range=8-188 PDB-length=189

  52 231 ssearchE-value=5.1E-13
▼ 52 442 1ykd_A adenylate cyclase

PDB-range=3-387 PDB-length=398

  52 442 ssearchE-value=3.0E-10
▼ 59 807 3ibj_A cGMP-dependent 3',5'-cyclic phosphodiesterase

PDB-range=17-682 PDB-length=691

  59 807 ssearchE-value=1.5E-65
▼ 60 215 4mcw_A Metal dependent phosphohydrolase

PDB-range=11-155 PDB-length=369

  60 215 ssearchE-value=1.6E-6
▼ 408 826 4qge_A Phosphodiesterase 9A

PDB-range=84-508 PDB-length=533

  408 826 ssearchE-value=1.7E-27
▼ 483 808 3hr1_A cAMP and cAMP-inhibited cGMP 3',5'-cyclic pho

PDB-range=40-349 PDB-length=380

  483 808 ssearchE-value=1.1E-40
▼ 494 820 2r8q_A Class I phosphodiesterase PDEB1

PDB-range=41-356 PDB-length=359

  494 820 ssearchE-value=2.8E-30
▼ 497 817 3v93_A Cyclic nucleotide specific phosphodiesterase

PDB-range=37-340 PDB-length=345

  497 817 ssearchE-value=5.7E-10
▼ 499 778 1so2_A cGMP-inhibited 3',5'-cyclic phosphodiesterase

PDB-range=26-342 PDB-length=420

  499 778 ssearchE-value=9.0E-10
▼ 523 839 4wzi_A cAMP-specific 3',5'-cyclic phosphodiesterase

PDB-range=290-601 PDB-length=655

  523 839 ssearchE-value=3.5E-26
▼ Sequence Information

Information relating to sequence residues.

▼ 1 854 Individual Residues

Information relating to each individual residue.

  1 M
  2 S
  3 L
  4 S
  5 E
  6 E
  7 Q
  8 A
  9 R
  10 S
  11 F
  12 L
  13 D
  14 Q
  15 N
  16 P
  17 D
  18 F
  19 A
  20 R
  21 Q
  22 Y
  23 F
  24 G
  25 K
  26 K
  27 L
  28 S
  29 P
  30 E
  31 N
  32 V
  33 A
  34 A
  35 A
  36 C
  37 E
  38 D
  39 G
  40 C
  41 P
  42 P
  43 D
  44 C
  45 D
  46 S
  47 L
  48 R
  49 D
  50 L
  51 C
  52 Q
  53 V
  54 E
  55 E
  56 S
  57 T
  58 A
  59 L
  60 L
  61 E
  62 L
  63 V
  64 Q
  65 D
  66 M
  67 Q
  68 E
  69 S
  70 I
  71 N
  72 M
  73 E
  74 R
  75 V
  76 V
  77 F
  78 K
  79 V
  80 L
  81 R
  82 R
  83 L
  84 C
  85 T
  86 L
  87 L
  88 Q
  89 A
  90 D
  91 R
  92 C
  93 S
  94 L
  95 F
  96 M
  97 Y
  98 R
  99 Q
  100 R
  101 N
  102 G
  103 V
  104 A
  105 E
  106 L
  107 A
  108 T
  109 R
  110 L
  111 F
  112 S
  113 V
  114 Q
  115 P
  116 D
  117 S
  118 V
  119 L
  120 E
  121 D
  122 C
  123 L
  124 V
  125 P
  126 P
  127 D
  128 S
  129 E
  130 I
  131 V
  132 F
  133 P
  134 L
  135 D
  136 I
  137 G
  138 V
  139 V
  140 G
  141 H
  142 V
  143 A
  144 Q
  145 T
  146 K
  147 K
  148 M
  149 V
  150 N
  151 V
  152 E
  153 D
  154 V
  155 A
  156 E
  157 C
  158 P
  159 H
  160 F
  161 S
  162 S
  163 F
  164 A
  165 D
  166 E
  167 L
  168 T
  169 D
  170 Y
  171 K
  172 T
  173 K
  174 N
  175 M
  176 L
  177 A
  178 T
  179 P
  180 I
  181 M
  182 N
  183 G
  184 K
  185 D
  186 V
  187 V
  188 A
  189 V
  190 I
  191 M
  192 A
  193 V
  194 N
  195 K
  196 L
  197 N
  198 G
  199 P
  200 F
  201 F
  202 T
  203 S
  204 E
  205 D
  206 E
  207 D
  208 V
  209 F
  210 L
  211 K
  212 Y
  213 L
  214 N
  215 F
  216 A
  217 T
  218 L
  219 Y
  220 L
  221 K
  222 I
  223 Y
  224 H
  225 L
  226 S
  227 Y
  228 L
  229 H
  230 N
  231 C
  232 E
  233 T
  234 R
  235 R
  236 G
  237 Q
  238 V
  239 L
  240 L
  241 W
  242 S
  243 A
  244 N
  245 K
  246 V
  247 F
  248 E
  249 E
  250 L
  251 T
  252 D
  253 I
  254 E
  255 R
  256 Q
  257 F
  258 H
  259 K
  260 A
  261 F
  262 Y
  263 T
  264 V
  265 R
  266 A
  267 Y
  268 L
  269 N
  270 C
  271 E
  272 R
  273 Y
  274 S
  275 V
  276 G
  277 L
  278 L
  279 D
  280 M
  281 T
  282 K
  283 E
  284 K
  285 E
  286 F
  287 F
  288 D
  289 V
  290 W
  291 S
  292 V
  293 L
  294 M
  295 G
  296 E
  297 S
  298 Q
  299 P
  300 Y
  301 S
  302 G
  303 P
  304 R
  305 T
  306 P
  307 D
  308 G
  309 R
  310 E
  311 I
  312 V
  313 F
  314 Y
  315 K
  316 V
  317 I
  318 D
  319 Y
  320 V
  321 L
  322 H
  323 G
  324 K
  325 E
  326 E
  327 I
  328 K
  329 V
  330 I
  331 P
  332 T
  333 P
  334 S
  335 A
  336 D
  337 H
  338 W
  339 A
  340 L
  341 A
  342 S
  343 G
  344 L
  345 P
  346 S
  347 Y
  348 V
  349 A
  350 E
  351 S
  352 G
  353 F
  354 I
  355 C
  356 N
  357 I
  358 M
  359 N
  360 A
  361 S
  362 A
  363 D
  364 E
  365 M
  366 F
  367 K
  368 F
  369 Q
  370 E
  371 G
  372 A
  373 L
  374 D
  375 D
  376 S
  377 G
  378 W
  379 L
  380 I
  381 K
  382 N
  383 V
  384 L
  385 S
  386 M
  387 P
  388 I
  389 V
  390 N
  391 K
  392 K
  393 E
  394 E
  395 I
  396 V
  397 G
  398 V
  399 A
  400 T
  401 F
  402 Y
  403 N
  404 R
  405 K
  406 D
  407 G
  408 K
  409 P
  410 F
  411 D
  412 E
  413 Q
  414 D
  415 E
  416 V
  417 L
  418 M
  419 E
  420 S
  421 L
  422 T
  423 Q
  424 F
  425 L
  426 G
  427 W
  428 S
  429 V
  430 M
  431 N
  432 T
  433 D
  434 T
  435 Y
  436 D
  437 K
  438 M
  439 N
  440 K
  441 L
  442 E
  443 N
  444 R
  445 K
  446 D
  447 I
  448 A
  449 Q
  450 D
  451 M
  452 V
  453 L
  454 Y
  455 H
  456 V
  457 K
  458 C
  459 D
  460 R
  461 D
  462 E
  463 I
  464 Q
  465 L
  466 I
  467 L
  468 P
  469 T
  470 R
  471 A
  472 R
  473 L
  474 G
  475 K
  476 E
  477 P
  478 A
  479 D
  480 C
  481 D
  482 E
  483 D
  484 E
  485 L
  486 G
  487 E
  488 I
  489 L
  490 K
  491 E
  492 E
  493 L
  494 P
  495 G
  496 P
  497 T
  498 T
  499 F
  500 D
  501 I
  502 Y
  503 E
  504 F
  505 H
  506 F
  507 S
  508 D
  509 L
  510 E
  511 C
  512 T
  513 E
  514 L
  515 D
  516 L
  517 V
  518 K
  519 C
  520 G
  521 I
  522 Q
  523 M
  524 Y
  525 Y
  526 E
  527 L
  528 G
  529 V
  530 V
  531 R
  532 K
  533 F
  534 Q
  535 I
  536 P
  537 Q
  538 E
  539 V
  540 L
  541 V
  542 R
  543 F
  544 L
  545 F
  546 S
  547 I
  548 S
  549 K
  550 G
  551 Y
  552 R
  553 R
  554 I
  555 T
  556 Y
  557 H
  558 N
  559 W
  560 R
  561 H
  562 G
  563 F
  564 N
  565 V
  566 A
  567 Q
  568 T
  569 M
  570 F
  571 T
  572 L
  573 L
  574 M
  575 T
  576 G
  577 K
  578 L
  579 K
  580 S
  581 Y
  582 Y
  583 T
  584 D
  585 L
  586 E
  587 A
  588 F
  589 A
  590 M
  591 V
  592 T
  593 A
  594 G
  595 L
  596 C
  597 H
  598 D
  599 I
  600 D
  601 H
  602 R
  603 G
  604 T
  605 N
  606 N
  607 L
  608 Y
  609 Q
  610 M
  611 K
  612 S
  613 Q
  614 N
  615 P
  616 L
  617 A
  618 K
  619 L
  620 H
  621 G
  622 S
  623 S
  624 I
  625 L
  626 E
  627 R
  628 H
  629 H
  630 L
  631 E
  632 F
  633 G
  634 K
  635 F
  636 L
  637 L
  638 S
  639 E
  640 E
  641 T
  642 L
  643 N
  644 I
  645 Y
  646 Q
  647 N
  648 L
  649 N
  650 R
  651 R
  652 Q
  653 H
  654 E
  655 H
  656 V
  657 I
  658 H
  659 L
  660 M
  661 D
  662 I
  663 A
  664 I
  665 I
  666 A
  667 T
  668 D
  669 L
  670 A
  671 L
  672 Y
  673 F
  674 K
  675 K
  676 R
  677 A
  678 M
  679 F
  680 Q
  681 K
  682 I
  683 V
  684 D
  685 E
  686 S
  687 K
  688 N
  689 Y
  690 Q
  691 D
  692 K
  693 K
  694 S
  695 W
  696 V
  697 E
  698 Y
  699 L
  700 S
  701 L
  702 E
  703 T
  704 T
  705 R
  706 K
  707 E
  708 I
  709 V
  710 M
  711 A
  712 M
  713 M
  714 M
  715 T
  716 A
  717 C
  718 D
  719 L
  720 S
  721 A
  722 I
  723 T
  724 K
  725 P
  726 W
  727 E
  728 V
  729 Q
  730 S
  731 K
  732 V
  733 A
  734 L
  735 L
  736 V
  737 A
  738 A
  739 E
  740 F
  741 W
  742 E
  743 Q
  744 G
  745 D
  746 L
  747 E
  748 R
  749 T
  750 V
  751 L
  752 D
  753 Q
  754 Q
  755 P
  756 I
  757 P
  758 M
  759 M
  760 D
  761 R
  762 N
  763 K
  764 A
  765 A
  766 E
  767 L
  768 P
  769 K
  770 L
  771 Q
  772 V
  773 G
  774 F
  775 I
  776 D
  777 F
  778 V
  779 C
  780 T
  781 F
  782 V
  783 Y
  784 K
  785 E
  786 F
  787 S
  788 R
  789 F
  790 H
  791 E
  792 E
  793 I
  794 L
  795 P
  796 M
  797 F
  798 D
  799 R
  800 L
  801 Q
  802 N
  803 N
  804 R
  805 K
  806 E
  807 W
  808 K
  809 A
  810 L
  811 A
  812 D
  813 E
  814 Y
  815 E
  816 A
  817 K
  818 V
  819 K
  820 A
  821 L
  822 E
  823 E
  824 K
  825 E
  826 E
  827 E
  828 E
  829 R
  830 V
  831 A
  832 A
  833 K
  834 K
  835 V
  836 G
  837 T
  838 E
  839 I
  840 C
  841 N
  842 G
  843 G
  844 P
  845 A
  846 P
  847 K
  848 S
  849 S
  850 T
  851 C
  852 C
  853 I
  854 L

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