Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3247 | 9964;9965;9966 | chr2:178764776;178764775;178764774 | chr2:179629503;179629502;179629501 |
| N2AB | 3247 | 9964;9965;9966 | chr2:178764776;178764775;178764774 | chr2:179629503;179629502;179629501 |
| N2A | 3247 | 9964;9965;9966 | chr2:178764776;178764775;178764774 | chr2:179629503;179629502;179629501 |
| N2B | 3201 | 9826;9827;9828 | chr2:178764776;178764775;178764774 | chr2:179629503;179629502;179629501 |
| Novex-1 | 3201 | 9826;9827;9828 | chr2:178764776;178764775;178764774 | chr2:179629503;179629502;179629501 |
| Novex-2 | 3201 | 9826;9827;9828 | chr2:178764776;178764775;178764774 | chr2:179629503;179629502;179629501 |
| Novex-3 | 3247 | 9964;9965;9966 | chr2:178764776;178764775;178764774 | chr2:179629503;179629502;179629501 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | D | 0.797 | 0.53 | 0.788987795477 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs2090057344  |
None | 0.999 | N | 0.813 | 0.391 | 0.544477446313 | gnomAD-4.0.0 | 1.59154E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.53421E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0972 | likely_benign | 0.1269 | benign | -0.483 | Destabilizing | 0.996 | D | 0.547 | neutral | N | 0.515925067 | None | None | N |
| P/C | 0.7797 | likely_pathogenic | 0.8888 | pathogenic | -0.736 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| P/D | 0.3851 | ambiguous | 0.5367 | ambiguous | -0.063 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/E | 0.3342 | likely_benign | 0.4642 | ambiguous | -0.158 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| P/F | 0.7905 | likely_pathogenic | 0.9052 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| P/G | 0.3984 | ambiguous | 0.5357 | ambiguous | -0.622 | Destabilizing | 0.504 | D | 0.411 | neutral | None | None | None | None | N |
| P/H | 0.3034 | likely_benign | 0.4712 | ambiguous | -0.116 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.520800551 | None | None | N |
| P/I | 0.6697 | likely_pathogenic | 0.8086 | pathogenic | -0.259 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/K | 0.491 | ambiguous | 0.666 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| P/L | 0.2607 | likely_benign | 0.3974 | ambiguous | -0.259 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.560309982 | None | None | N |
| P/M | 0.5458 | ambiguous | 0.706 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| P/N | 0.3862 | ambiguous | 0.519 | ambiguous | -0.217 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| P/Q | 0.25 | likely_benign | 0.3745 | ambiguous | -0.408 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/R | 0.3103 | likely_benign | 0.4917 | ambiguous | 0.08 | Stabilizing | 1.0 | D | 0.784 | deleterious | N | 0.511313441 | None | None | N |
| P/S | 0.1584 | likely_benign | 0.2356 | benign | -0.621 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | N | 0.474998025 | None | None | N |
| P/T | 0.1783 | likely_benign | 0.2836 | benign | -0.607 | Destabilizing | 0.999 | D | 0.813 | deleterious | N | 0.516437298 | None | None | N |
| P/V | 0.4556 | ambiguous | 0.6074 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| P/W | 0.8597 | likely_pathogenic | 0.9409 | pathogenic | -0.693 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| P/Y | 0.6931 | likely_pathogenic | 0.8444 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.781 | 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.