Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33276 | 100051;100052;100053 | chr2:178537381;178537380;178537379 | chr2:179402108;179402107;179402106 |
| N2AB | 31635 | 95128;95129;95130 | chr2:178537381;178537380;178537379 | chr2:179402108;179402107;179402106 |
| N2A | 30708 | 92347;92348;92349 | chr2:178537381;178537380;178537379 | chr2:179402108;179402107;179402106 |
| N2B | 24211 | 72856;72857;72858 | chr2:178537381;178537380;178537379 | chr2:179402108;179402107;179402106 |
| Novex-1 | 24336 | 73231;73232;73233 | chr2:178537381;178537380;178537379 | chr2:179402108;179402107;179402106 |
| Novex-2 | 24403 | 73432;73433;73434 | chr2:178537381;178537380;178537379 | chr2:179402108;179402107;179402106 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/Y | rs1159073081  |
-0.683 | 0.001 | N | 0.409 | 0.106 | 0.310147130316 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| F/Y | rs1159073081 |
-0.683 | 0.001 | N | 0.409 | 0.106 | 0.310147130316 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/Y | rs1159073081 |
-0.683 | 0.001 | N | 0.409 | 0.106 | 0.310147130316 | gnomAD-4.0.0 | 8.11929E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.63925E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.7519 | likely_pathogenic | 0.6939 | pathogenic | -0.757 | Destabilizing | 0.432 | N | 0.555 | neutral | None | None | None | None | I |
| F/C | 0.5184 | ambiguous | 0.5125 | ambiguous | -0.397 | Destabilizing | 0.979 | D | 0.607 | neutral | N | 0.509894683 | None | None | I |
| F/D | 0.9449 | likely_pathogenic | 0.9111 | pathogenic | 0.678 | Stabilizing | 0.728 | D | 0.567 | neutral | None | None | None | None | I |
| F/E | 0.9576 | likely_pathogenic | 0.9379 | pathogenic | 0.65 | Stabilizing | 0.445 | N | 0.559 | neutral | None | None | None | None | I |
| F/G | 0.9275 | likely_pathogenic | 0.8987 | pathogenic | -0.907 | Destabilizing | 0.728 | D | 0.546 | neutral | None | None | None | None | I |
| F/H | 0.6718 | likely_pathogenic | 0.592 | pathogenic | 0.261 | Stabilizing | 0.002 | N | 0.504 | neutral | None | None | None | None | I |
| F/I | 0.6238 | likely_pathogenic | 0.6069 | pathogenic | -0.392 | Destabilizing | 0.107 | N | 0.506 | neutral | N | 0.483822802 | None | None | I |
| F/K | 0.9632 | likely_pathogenic | 0.9467 | pathogenic | -0.106 | Destabilizing | 0.526 | D | 0.566 | neutral | None | None | None | None | I |
| F/L | 0.9219 | likely_pathogenic | 0.8958 | pathogenic | -0.392 | Destabilizing | 0.001 | N | 0.312 | neutral | N | 0.444168336 | None | None | I |
| F/M | 0.8033 | likely_pathogenic | 0.7487 | pathogenic | -0.454 | Destabilizing | 0.049 | N | 0.518 | neutral | None | None | None | None | I |
| F/N | 0.8336 | likely_pathogenic | 0.7607 | pathogenic | -0.136 | Destabilizing | 0.572 | D | 0.567 | neutral | None | None | None | None | I |
| F/P | 0.9959 | likely_pathogenic | 0.9942 | pathogenic | -0.496 | Destabilizing | 0.943 | D | 0.57 | neutral | None | None | None | None | I |
| F/Q | 0.9144 | likely_pathogenic | 0.8914 | pathogenic | -0.134 | Destabilizing | 0.445 | N | 0.563 | neutral | None | None | None | None | I |
| F/R | 0.9073 | likely_pathogenic | 0.8894 | pathogenic | 0.226 | Stabilizing | 0.526 | D | 0.565 | neutral | None | None | None | None | I |
| F/S | 0.6139 | likely_pathogenic | 0.5327 | ambiguous | -0.717 | Destabilizing | 0.668 | D | 0.573 | neutral | N | 0.450691664 | None | None | I |
| F/T | 0.7974 | likely_pathogenic | 0.7422 | pathogenic | -0.655 | Destabilizing | 0.728 | D | 0.573 | neutral | None | None | None | None | I |
| F/V | 0.5657 | likely_pathogenic | 0.5454 | ambiguous | -0.496 | Destabilizing | 0.079 | N | 0.51 | neutral | N | 0.450747592 | None | None | I |
| F/W | 0.6562 | likely_pathogenic | 0.646 | pathogenic | -0.375 | Destabilizing | 0.972 | D | 0.533 | neutral | None | None | None | None | I |
| F/Y | 0.2532 | likely_benign | 0.2193 | benign | -0.337 | Destabilizing | 0.001 | N | 0.409 | neutral | N | 0.49044213 | None | None | I |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.