Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35776 | 107551;107552;107553 | chr2:178528325;178528324;178528323 | chr2:179393052;179393051;179393050 |
| N2AB | 34135 | 102628;102629;102630 | chr2:178528325;178528324;178528323 | chr2:179393052;179393051;179393050 |
| N2A | 33208 | 99847;99848;99849 | chr2:178528325;178528324;178528323 | chr2:179393052;179393051;179393050 |
| N2B | 26711 | 80356;80357;80358 | chr2:178528325;178528324;178528323 | chr2:179393052;179393051;179393050 |
| Novex-1 | 26836 | 80731;80732;80733 | chr2:178528325;178528324;178528323 | chr2:179393052;179393051;179393050 |
| Novex-2 | 26903 | 80932;80933;80934 | chr2:178528325;178528324;178528323 | chr2:179393052;179393051;179393050 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | None | None | 1.0 | N | 0.643 | 0.604 | 0.594874987132 | gnomAD-4.0.0 | 1.36835E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79887E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9135 | likely_pathogenic | 0.9034 | pathogenic | -1.318 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| A/D | 0.9931 | likely_pathogenic | 0.9916 | pathogenic | -2.688 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.645965561 | None | None | N |
| A/E | 0.9819 | likely_pathogenic | 0.9779 | pathogenic | -2.467 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| A/F | 0.9539 | likely_pathogenic | 0.9484 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| A/G | 0.3375 | likely_benign | 0.3081 | benign | -1.767 | Destabilizing | 1.0 | D | 0.562 | neutral | D | 0.58403832 | None | None | N |
| A/H | 0.9961 | likely_pathogenic | 0.9953 | pathogenic | -2.239 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/I | 0.8181 | likely_pathogenic | 0.8207 | pathogenic | 0.059 | Stabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| A/K | 0.9966 | likely_pathogenic | 0.9957 | pathogenic | -1.468 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| A/L | 0.7383 | likely_pathogenic | 0.7238 | pathogenic | 0.059 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| A/M | 0.8524 | likely_pathogenic | 0.8377 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/N | 0.9859 | likely_pathogenic | 0.9832 | pathogenic | -1.82 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/P | 0.9894 | likely_pathogenic | 0.9875 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.61349287 | None | None | N |
| A/Q | 0.9812 | likely_pathogenic | 0.978 | pathogenic | -1.581 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| A/R | 0.9891 | likely_pathogenic | 0.9868 | pathogenic | -1.558 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/S | 0.472 | ambiguous | 0.4564 | ambiguous | -2.2 | Highly Destabilizing | 1.0 | D | 0.559 | neutral | D | 0.591730114 | None | None | N |
| A/T | 0.6288 | likely_pathogenic | 0.6039 | pathogenic | -1.857 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.628906819 | None | None | N |
| A/V | 0.5102 | ambiguous | 0.513 | ambiguous | -0.344 | Destabilizing | 1.0 | D | 0.643 | neutral | N | 0.492642813 | None | None | N |
| A/W | 0.9966 | likely_pathogenic | 0.9961 | pathogenic | -1.585 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| A/Y | 0.9853 | likely_pathogenic | 0.9829 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.889 | 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.