Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24325 | 73198;73199;73200 | chr2:178573159;178573158;178573157 | chr2:179437886;179437885;179437884 |
| N2AB | 22684 | 68275;68276;68277 | chr2:178573159;178573158;178573157 | chr2:179437886;179437885;179437884 |
| N2A | 21757 | 65494;65495;65496 | chr2:178573159;178573158;178573157 | chr2:179437886;179437885;179437884 |
| N2B | 15260 | 46003;46004;46005 | chr2:178573159;178573158;178573157 | chr2:179437886;179437885;179437884 |
| Novex-1 | 15385 | 46378;46379;46380 | chr2:178573159;178573158;178573157 | chr2:179437886;179437885;179437884 |
| Novex-2 | 15452 | 46579;46580;46581 | chr2:178573159;178573158;178573157 | chr2:179437886;179437885;179437884 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs755886285  |
-0.871 | 1.0 | N | 0.86 | 0.451 | 0.549249573952 | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 2.48098E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs755886285 |
-0.871 | 1.0 | N | 0.86 | 0.451 | 0.549249573952 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.66E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs755886285 |
-0.871 | 1.0 | N | 0.86 | 0.451 | 0.549249573952 | gnomAD-4.0.0 | 1.02634E-05 | None | None | None | None | N | None | 1.35446E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4758 | ambiguous | 0.4478 | ambiguous | -0.805 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.486041728 | None | None | N |
| G/C | 0.7956 | likely_pathogenic | 0.8099 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/D | 0.9471 | likely_pathogenic | 0.9482 | pathogenic | -1.608 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/E | 0.9558 | likely_pathogenic | 0.9539 | pathogenic | -1.643 | Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.478039558 | None | None | N |
| G/F | 0.9571 | likely_pathogenic | 0.9635 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/H | 0.9732 | likely_pathogenic | 0.9762 | pathogenic | -1.499 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/I | 0.95 | likely_pathogenic | 0.9557 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/K | 0.9876 | likely_pathogenic | 0.9894 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| G/L | 0.9285 | likely_pathogenic | 0.9114 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/M | 0.9524 | likely_pathogenic | 0.9494 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/N | 0.9328 | likely_pathogenic | 0.94 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/P | 0.9942 | likely_pathogenic | 0.9952 | pathogenic | -0.469 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/Q | 0.9572 | likely_pathogenic | 0.9579 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/R | 0.9689 | likely_pathogenic | 0.9616 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.86 | deleterious | N | 0.505248847 | None | None | N |
| G/S | 0.3443 | ambiguous | 0.3437 | ambiguous | -1.269 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| G/T | 0.8457 | likely_pathogenic | 0.8636 | pathogenic | -1.236 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/V | 0.9168 | likely_pathogenic | 0.9234 | pathogenic | -0.469 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.523606591 | None | None | N |
| G/W | 0.9523 | likely_pathogenic | 0.9594 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| G/Y | 0.9498 | likely_pathogenic | 0.9562 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
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.