Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28961 | 87106;87107;87108 | chr2:178558578;178558577;178558576 | chr2:179423305;179423304;179423303 |
| N2AB | 27320 | 82183;82184;82185 | chr2:178558578;178558577;178558576 | chr2:179423305;179423304;179423303 |
| N2A | 26393 | 79402;79403;79404 | chr2:178558578;178558577;178558576 | chr2:179423305;179423304;179423303 |
| N2B | 19896 | 59911;59912;59913 | chr2:178558578;178558577;178558576 | chr2:179423305;179423304;179423303 |
| Novex-1 | 20021 | 60286;60287;60288 | chr2:178558578;178558577;178558576 | chr2:179423305;179423304;179423303 |
| Novex-2 | 20088 | 60487;60488;60489 | chr2:178558578;178558577;178558576 | chr2:179423305;179423304;179423303 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | rs1702379726  |
None | 1.0 | D | 0.895 | 0.785 | 0.809978762377 | gnomAD-4.0.0 | 4.77456E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.33843E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9622 | likely_pathogenic | 0.9671 | pathogenic | -2.836 | Highly Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| L/C | 0.9309 | likely_pathogenic | 0.9403 | pathogenic | -1.938 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| L/D | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.496 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| L/E | 0.998 | likely_pathogenic | 0.998 | pathogenic | -3.159 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| L/F | 0.4283 | ambiguous | 0.4957 | ambiguous | -1.718 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| L/G | 0.9951 | likely_pathogenic | 0.9956 | pathogenic | -3.45 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| L/H | 0.9931 | likely_pathogenic | 0.9943 | pathogenic | -3.256 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| L/I | 0.1165 | likely_benign | 0.127 | benign | -0.97 | Destabilizing | 0.803 | D | 0.339 | neutral | None | None | None | None | N |
| L/K | 0.996 | likely_pathogenic | 0.9961 | pathogenic | -2.145 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| L/M | 0.2595 | likely_benign | 0.2833 | benign | -1.199 | Destabilizing | 1.0 | D | 0.673 | neutral | N | 0.520669844 | None | None | N |
| L/N | 0.9981 | likely_pathogenic | 0.9982 | pathogenic | -2.932 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| L/P | 0.9969 | likely_pathogenic | 0.997 | pathogenic | -1.587 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.558145802 | None | None | N |
| L/Q | 0.9913 | likely_pathogenic | 0.9924 | pathogenic | -2.512 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.558145802 | None | None | N |
| L/R | 0.9913 | likely_pathogenic | 0.9921 | pathogenic | -2.319 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.558145802 | None | None | N |
| L/S | 0.9956 | likely_pathogenic | 0.9962 | pathogenic | -3.415 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| L/T | 0.9781 | likely_pathogenic | 0.9811 | pathogenic | -2.909 | Highly Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| L/V | 0.1732 | likely_benign | 0.185 | benign | -1.587 | Destabilizing | 0.964 | D | 0.615 | neutral | N | 0.474664148 | None | None | N |
| L/W | 0.9596 | likely_pathogenic | 0.9682 | pathogenic | -2.091 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| L/Y | 0.9661 | likely_pathogenic | 0.9728 | pathogenic | -1.946 | Destabilizing | 1.0 | D | 0.761 | 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.