Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16123 | 48592;48593;48594 | chr2:178615734;178615733;178615732 | chr2:179480461;179480460;179480459 |
| N2AB | 14482 | 43669;43670;43671 | chr2:178615734;178615733;178615732 | chr2:179480461;179480460;179480459 |
| N2A | 13555 | 40888;40889;40890 | chr2:178615734;178615733;178615732 | chr2:179480461;179480460;179480459 |
| N2B | 7058 | 21397;21398;21399 | chr2:178615734;178615733;178615732 | chr2:179480461;179480460;179480459 |
| Novex-1 | 7183 | 21772;21773;21774 | chr2:178615734;178615733;178615732 | chr2:179480461;179480460;179480459 |
| Novex-2 | 7250 | 21973;21974;21975 | chr2:178615734;178615733;178615732 | chr2:179480461;179480460;179480459 |
| 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/N | rs374696964  |
-1.198 | 1.0 | N | 0.693 | 0.304 | 0.171388866994 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 1.94301E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/N | rs374696964 |
-1.198 | 1.0 | N | 0.693 | 0.304 | 0.171388866994 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | rs374696964 |
-1.198 | 1.0 | N | 0.693 | 0.304 | 0.171388866994 | gnomAD-4.0.0 | 3.85076E-06 | None | None | None | None | N | None | 5.08423E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.6583 | likely_pathogenic | 0.7528 | pathogenic | -0.72 | Destabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | N |
| K/C | 0.73 | likely_pathogenic | 0.7814 | pathogenic | -0.67 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | N |
| K/D | 0.8614 | likely_pathogenic | 0.9069 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| K/E | 0.3978 | ambiguous | 0.5128 | ambiguous | -0.253 | Destabilizing | 0.999 | D | 0.527 | neutral | N | 0.479997641 | None | None | N |
| K/F | 0.9264 | likely_pathogenic | 0.9546 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| K/G | 0.7079 | likely_pathogenic | 0.7551 | pathogenic | -1.12 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| K/H | 0.4586 | ambiguous | 0.5147 | ambiguous | -1.396 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| K/I | 0.6667 | likely_pathogenic | 0.7692 | pathogenic | 0.337 | Stabilizing | 1.0 | D | 0.678 | prob.neutral | N | 0.483280356 | None | None | N |
| K/L | 0.6508 | likely_pathogenic | 0.7498 | pathogenic | 0.337 | Stabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| K/M | 0.4322 | ambiguous | 0.5267 | ambiguous | 0.146 | Stabilizing | 1.0 | D | 0.632 | neutral | None | None | None | None | N |
| K/N | 0.6757 | likely_pathogenic | 0.7422 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.461515839 | None | None | N |
| K/P | 0.9779 | likely_pathogenic | 0.9861 | pathogenic | 0.015 | Stabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| K/Q | 0.2151 | likely_benign | 0.256 | benign | -0.724 | Destabilizing | 1.0 | D | 0.674 | neutral | N | 0.478668325 | None | None | N |
| K/R | 0.0902 | likely_benign | 0.0951 | benign | -0.811 | Destabilizing | 0.999 | D | 0.533 | neutral | N | 0.474795882 | None | None | N |
| K/S | 0.6748 | likely_pathogenic | 0.7647 | pathogenic | -1.35 | Destabilizing | 0.999 | D | 0.614 | neutral | None | None | None | None | N |
| K/T | 0.392 | ambiguous | 0.5309 | ambiguous | -0.992 | Destabilizing | 1.0 | D | 0.673 | neutral | N | 0.420162373 | None | None | N |
| K/V | 0.5661 | likely_pathogenic | 0.6786 | pathogenic | 0.015 | Stabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| K/W | 0.888 | likely_pathogenic | 0.9233 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| K/Y | 0.8197 | likely_pathogenic | 0.8678 | pathogenic | 0.12 | Stabilizing | 1.0 | D | 0.669 | 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.