Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15968 | 48127;48128;48129 | chr2:178616987;178616986;178616985 | chr2:179481714;179481713;179481712 |
| N2AB | 14327 | 43204;43205;43206 | chr2:178616987;178616986;178616985 | chr2:179481714;179481713;179481712 |
| N2A | 13400 | 40423;40424;40425 | chr2:178616987;178616986;178616985 | chr2:179481714;179481713;179481712 |
| N2B | 6903 | 20932;20933;20934 | chr2:178616987;178616986;178616985 | chr2:179481714;179481713;179481712 |
| Novex-1 | 7028 | 21307;21308;21309 | chr2:178616987;178616986;178616985 | chr2:179481714;179481713;179481712 |
| Novex-2 | 7095 | 21508;21509;21510 | chr2:178616987;178616986;178616985 | chr2:179481714;179481713;179481712 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1261511850  |
-0.775 | 0.999 | N | 0.548 | 0.481 | 0.390687800842 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.97E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/L | rs1261511850 |
-0.775 | 0.999 | N | 0.548 | 0.481 | 0.390687800842 | gnomAD-4.0.0 | 1.5937E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.77646E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9717 | likely_pathogenic | 0.9725 | pathogenic | -1.524 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| F/C | 0.8701 | likely_pathogenic | 0.869 | pathogenic | -1.227 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.557314781 | None | None | N |
| F/D | 0.9906 | likely_pathogenic | 0.9921 | pathogenic | 0.107 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| F/E | 0.9886 | likely_pathogenic | 0.9894 | pathogenic | 0.159 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| F/G | 0.9833 | likely_pathogenic | 0.9842 | pathogenic | -1.774 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| F/H | 0.9327 | likely_pathogenic | 0.9343 | pathogenic | -0.231 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| F/I | 0.84 | likely_pathogenic | 0.8288 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | D | 0.551807004 | None | None | N |
| F/K | 0.9847 | likely_pathogenic | 0.9873 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| F/L | 0.9749 | likely_pathogenic | 0.9743 | pathogenic | -0.812 | Destabilizing | 0.999 | D | 0.548 | neutral | N | 0.491298778 | None | None | N |
| F/M | 0.8949 | likely_pathogenic | 0.8957 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| F/N | 0.9712 | likely_pathogenic | 0.9745 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| F/P | 0.9978 | likely_pathogenic | 0.9978 | pathogenic | -1.038 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| F/Q | 0.9725 | likely_pathogenic | 0.9745 | pathogenic | -1.059 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| F/R | 0.9686 | likely_pathogenic | 0.9722 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| F/S | 0.9585 | likely_pathogenic | 0.9618 | pathogenic | -1.84 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.554528702 | None | None | N |
| F/T | 0.9728 | likely_pathogenic | 0.9757 | pathogenic | -1.687 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| F/V | 0.7907 | likely_pathogenic | 0.7875 | pathogenic | -1.038 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | D | 0.551807004 | None | None | N |
| F/W | 0.7751 | likely_pathogenic | 0.7692 | pathogenic | -0.253 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| F/Y | 0.4293 | ambiguous | 0.4462 | ambiguous | -0.45 | Destabilizing | 0.999 | D | 0.551 | neutral | N | 0.500983867 | 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.