Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 168 | 727;728;729 | chr2:178800476;178800475;178800474 | chr2:179665203;179665202;179665201 |
| N2AB | 168 | 727;728;729 | chr2:178800476;178800475;178800474 | chr2:179665203;179665202;179665201 |
| N2A | 168 | 727;728;729 | chr2:178800476;178800475;178800474 | chr2:179665203;179665202;179665201 |
| N2B | 168 | 727;728;729 | chr2:178800476;178800475;178800474 | chr2:179665203;179665202;179665201 |
| Novex-1 | 168 | 727;728;729 | chr2:178800476;178800475;178800474 | chr2:179665203;179665202;179665201 |
| Novex-2 | 168 | 727;728;729 | chr2:178800476;178800475;178800474 | chr2:179665203;179665202;179665201 |
| Novex-3 | 168 | 727;728;729 | chr2:178800476;178800475;178800474 | chr2:179665203;179665202;179665201 |
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 | N | 0.76 | 0.456 | 0.759971447399 | gnomAD-4.0.0 | 4.77133E-06 | None | None | None | -0.896(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.56937E-06 | 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 | 0.2743 | likely_benign | 0.4005 | ambiguous | -1.168 | Destabilizing | 1.0 | D | 0.629 | neutral | D | 0.522071032 | None | -0.563(TCAP) | N |
| P/C | 0.9678 | likely_pathogenic | 0.9817 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | -1.058(TCAP) | N |
| P/D | 0.9212 | likely_pathogenic | 0.9648 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | -1.055(TCAP) | N |
| P/E | 0.6863 | likely_pathogenic | 0.7976 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | -1.227(TCAP) | N |
| P/F | 0.9611 | likely_pathogenic | 0.9832 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | -0.393(TCAP) | N |
| P/G | 0.8407 | likely_pathogenic | 0.9136 | pathogenic | -1.383 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | -0.47(TCAP) | N |
| P/H | 0.7666 | likely_pathogenic | 0.8602 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.598999169 | None | -0.272(TCAP) | N |
| P/I | 0.8035 | likely_pathogenic | 0.8908 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | -0.896(TCAP) | N |
| P/K | 0.7612 | likely_pathogenic | 0.8476 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | -1.517(TCAP) | N |
| P/L | 0.4337 | ambiguous | 0.5747 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.518308307 | None | -0.896(TCAP) | N |
| P/M | 0.8083 | likely_pathogenic | 0.8904 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | -0.839(TCAP) | N |
| P/N | 0.9118 | likely_pathogenic | 0.9584 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | -0.978(TCAP) | N |
| P/Q | 0.5437 | ambiguous | 0.6929 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | -1.056(TCAP) | N |
| P/R | 0.5527 | ambiguous | 0.6804 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.742 | deleterious | N | 0.518632753 | None | -1.507(TCAP) | N |
| P/S | 0.5391 | ambiguous | 0.6986 | pathogenic | -1.114 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | D | 0.522179689 | None | -0.694(TCAP) | N |
| P/T | 0.4773 | ambiguous | 0.6325 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.519563453 | None | -0.86(TCAP) | N |
| P/V | 0.627 | likely_pathogenic | 0.7593 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | -0.777(TCAP) | N |
| P/W | 0.9742 | likely_pathogenic | 0.9869 | pathogenic | -1.197 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | -0.542(TCAP) | N |
| P/Y | 0.9474 | likely_pathogenic | 0.9753 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | -0.435(TCAP) | 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.