Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26377 | 79354;79355;79356 | chr2:178567003;178567002;178567001 | chr2:179431730;179431729;179431728 |
| N2AB | 24736 | 74431;74432;74433 | chr2:178567003;178567002;178567001 | chr2:179431730;179431729;179431728 |
| N2A | 23809 | 71650;71651;71652 | chr2:178567003;178567002;178567001 | chr2:179431730;179431729;179431728 |
| N2B | 17312 | 52159;52160;52161 | chr2:178567003;178567002;178567001 | chr2:179431730;179431729;179431728 |
| Novex-1 | 17437 | 52534;52535;52536 | chr2:178567003;178567002;178567001 | chr2:179431730;179431729;179431728 |
| Novex-2 | 17504 | 52735;52736;52737 | chr2:178567003;178567002;178567001 | chr2:179431730;179431729;179431728 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs752752131  |
-0.849 | 0.99 | N | 0.825 | 0.326 | 0.304435445954 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 1.40449E-04 |
| P/S | rs752752131 |
-0.849 | 0.99 | N | 0.825 | 0.326 | 0.304435445954 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/S | rs752752131 |
-0.849 | 0.99 | N | 0.825 | 0.326 | 0.304435445954 | gnomAD-4.0.0 | 1.11564E-05 | None | None | None | None | N | None | 1.33601E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44109E-05 | 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 | 0.0587 | likely_benign | 0.0515 | benign | -0.636 | Destabilizing | 0.429 | N | 0.422 | neutral | N | 0.514390852 | None | None | N |
| P/C | 0.5113 | ambiguous | 0.4448 | ambiguous | -0.67 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| P/D | 0.7704 | likely_pathogenic | 0.7093 | pathogenic | -0.53 | Destabilizing | 0.998 | D | 0.796 | deleterious | None | None | None | None | N |
| P/E | 0.494 | ambiguous | 0.4277 | ambiguous | -0.635 | Destabilizing | 0.998 | D | 0.816 | deleterious | None | None | None | None | N |
| P/F | 0.7478 | likely_pathogenic | 0.6776 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| P/G | 0.4082 | ambiguous | 0.3218 | benign | -0.794 | Destabilizing | 0.974 | D | 0.736 | deleterious | None | None | None | None | N |
| P/H | 0.3949 | ambiguous | 0.3587 | ambiguous | -0.305 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| P/I | 0.4821 | ambiguous | 0.4114 | ambiguous | -0.362 | Destabilizing | 0.998 | D | 0.744 | deleterious | None | None | None | None | N |
| P/K | 0.5907 | likely_pathogenic | 0.5354 | ambiguous | -0.632 | Destabilizing | 0.996 | D | 0.815 | deleterious | None | None | None | None | N |
| P/L | 0.2551 | likely_benign | 0.2173 | benign | -0.362 | Destabilizing | 0.995 | D | 0.71 | prob.delet. | N | 0.51070221 | None | None | N |
| P/M | 0.4876 | ambiguous | 0.4137 | ambiguous | -0.375 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| P/N | 0.5847 | likely_pathogenic | 0.493 | ambiguous | -0.371 | Destabilizing | 0.999 | D | 0.739 | deleterious | None | None | None | None | N |
| P/Q | 0.3086 | likely_benign | 0.2596 | benign | -0.63 | Destabilizing | 0.999 | D | 0.763 | deleterious | D | 0.527707282 | None | None | N |
| P/R | 0.4139 | ambiguous | 0.3733 | ambiguous | -0.051 | Destabilizing | 0.998 | D | 0.731 | deleterious | N | 0.520870427 | None | None | N |
| P/S | 0.1543 | likely_benign | 0.1233 | benign | -0.733 | Destabilizing | 0.99 | D | 0.825 | deleterious | N | 0.486383438 | None | None | N |
| P/T | 0.1637 | likely_benign | 0.1278 | benign | -0.739 | Destabilizing | 0.995 | D | 0.774 | deleterious | N | 0.487611205 | None | None | N |
| P/V | 0.2761 | likely_benign | 0.2261 | benign | -0.418 | Destabilizing | 0.996 | D | 0.683 | prob.neutral | None | None | None | None | N |
| P/W | 0.8748 | likely_pathogenic | 0.8484 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.687 | prob.delet. | None | None | None | None | N |
| P/Y | 0.7399 | likely_pathogenic | 0.6907 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.745 | 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.