Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9961 | 30106;30107;30108 | chr2:178704591;178704590;178704589 | chr2:179569318;179569317;179569316 |
| N2AB | 9644 | 29155;29156;29157 | chr2:178704591;178704590;178704589 | chr2:179569318;179569317;179569316 |
| N2A | 8717 | 26374;26375;26376 | chr2:178704591;178704590;178704589 | chr2:179569318;179569317;179569316 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs745410947  |
-1.344 | 0.062 | None | 0.405 | 0.245 | 0.260735089382 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| K/E | rs745410947 |
-1.344 | 0.062 | None | 0.405 | 0.245 | 0.260735089382 | gnomAD-4.0.0 | 1.59273E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43571E-05 | 0 |
| K/N | None | None | 0.117 | None | 0.392 | 0.135 | 0.184867976434 | gnomAD-4.0.0 | 7.20193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.87501E-06 | 0 | 0 |
| K/R | rs778649000 |
-0.929 | None | None | 0.067 | 0.181 | 0.149567049428 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.87E-05 | None | 0 | 0 | 0 |
| K/R | rs778649000 |
-0.929 | None | None | 0.067 | 0.181 | 0.149567049428 | gnomAD-4.0.0 | 5.47539E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.28936E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.6743 | likely_pathogenic | 0.7893 | pathogenic | -0.594 | Destabilizing | 0.067 | N | 0.356 | neutral | None | None | None | None | N |
| K/C | 0.8214 | likely_pathogenic | 0.8981 | pathogenic | -0.974 | Destabilizing | 0.935 | D | 0.525 | neutral | None | None | None | None | N |
| K/D | 0.9001 | likely_pathogenic | 0.9466 | pathogenic | -1.031 | Destabilizing | 0.149 | N | 0.426 | neutral | None | None | None | None | N |
| K/E | 0.3943 | ambiguous | 0.5167 | ambiguous | -0.919 | Destabilizing | 0.062 | N | 0.405 | neutral | None | None | None | None | N |
| K/F | 0.895 | likely_pathogenic | 0.9462 | pathogenic | -0.468 | Destabilizing | 0.555 | D | 0.52 | neutral | None | None | None | None | N |
| K/G | 0.7321 | likely_pathogenic | 0.8297 | pathogenic | -0.956 | Destabilizing | 0.149 | N | 0.436 | neutral | None | None | None | None | N |
| K/H | 0.4746 | ambiguous | 0.5805 | pathogenic | -1.416 | Destabilizing | 0.555 | D | 0.454 | neutral | None | None | None | None | N |
| K/I | 0.577 | likely_pathogenic | 0.718 | pathogenic | 0.345 | Stabilizing | 0.317 | N | 0.529 | neutral | None | None | None | None | N |
| K/L | 0.5671 | likely_pathogenic | 0.6629 | pathogenic | 0.345 | Stabilizing | 0.149 | N | 0.427 | neutral | None | None | None | None | N |
| K/M | 0.4579 | ambiguous | 0.5604 | ambiguous | 0.305 | Stabilizing | 0.791 | D | 0.445 | neutral | None | None | None | None | N |
| K/N | 0.69 | likely_pathogenic | 0.8095 | pathogenic | -0.96 | Destabilizing | 0.117 | N | 0.392 | neutral | None | None | None | None | N |
| K/P | 0.9477 | likely_pathogenic | 0.9626 | pathogenic | 0.062 | Stabilizing | 0.555 | D | 0.441 | neutral | None | None | None | None | N |
| K/Q | 0.2154 | likely_benign | 0.2873 | benign | -1.087 | Destabilizing | 0.117 | N | 0.441 | neutral | None | None | None | None | N |
| K/R | 0.0717 | likely_benign | 0.0858 | benign | -0.814 | Destabilizing | None | N | 0.067 | neutral | None | None | None | None | N |
| K/S | 0.7252 | likely_pathogenic | 0.842 | pathogenic | -1.487 | Destabilizing | 0.081 | N | 0.362 | neutral | None | None | None | None | N |
| K/T | 0.4091 | ambiguous | 0.5444 | ambiguous | -1.173 | Destabilizing | 0.002 | N | 0.221 | neutral | None | None | None | None | N |
| K/V | 0.5799 | likely_pathogenic | 0.7064 | pathogenic | 0.062 | Stabilizing | 0.149 | N | 0.457 | neutral | None | None | None | None | N |
| K/W | 0.8393 | likely_pathogenic | 0.902 | pathogenic | -0.431 | Destabilizing | 0.935 | D | 0.597 | neutral | None | None | None | None | N |
| K/Y | 0.8021 | likely_pathogenic | 0.8806 | pathogenic | -0.037 | Destabilizing | 0.555 | D | 0.511 | neutral | 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.