Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14481 | 43666;43667;43668 | chr2:178632565;178632564;178632563 | chr2:179497292;179497291;179497290 |
| N2AB | 12840 | 38743;38744;38745 | chr2:178632565;178632564;178632563 | chr2:179497292;179497291;179497290 |
| N2A | 11913 | 35962;35963;35964 | chr2:178632565;178632564;178632563 | chr2:179497292;179497291;179497290 |
| N2B | 5416 | 16471;16472;16473 | chr2:178632565;178632564;178632563 | chr2:179497292;179497291;179497290 |
| Novex-1 | 5541 | 16846;16847;16848 | chr2:178632565;178632564;178632563 | chr2:179497292;179497291;179497290 |
| Novex-2 | 5608 | 17047;17048;17049 | chr2:178632565;178632564;178632563 | chr2:179497292;179497291;179497290 |
| 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/D | None | None | 1.0 | D | 0.861 | 0.602 | 0.864826126208 | gnomAD-4.0.0 | 1.59227E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43336E-05 | 0 |
| A/P | None | None | 1.0 | D | 0.853 | 0.54 | 0.620428437143 | gnomAD-4.0.0 | 6.00161E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56251E-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 | 0.8715 | likely_pathogenic | 0.8283 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/D | 0.9802 | likely_pathogenic | 0.978 | pathogenic | -2.441 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.7202141 | None | None | N |
| A/E | 0.977 | likely_pathogenic | 0.9776 | pathogenic | -2.178 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/F | 0.965 | likely_pathogenic | 0.9524 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/G | 0.3794 | ambiguous | 0.3665 | ambiguous | -1.522 | Destabilizing | 1.0 | D | 0.583 | neutral | D | 0.682671811 | None | None | N |
| A/H | 0.9927 | likely_pathogenic | 0.9907 | pathogenic | -2.145 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/I | 0.8664 | likely_pathogenic | 0.8409 | pathogenic | 0.532 | Stabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/K | 0.9947 | likely_pathogenic | 0.9946 | pathogenic | -1.162 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| A/L | 0.7968 | likely_pathogenic | 0.78 | pathogenic | 0.532 | Stabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| A/M | 0.8563 | likely_pathogenic | 0.8243 | pathogenic | 0.14 | Stabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/N | 0.9725 | likely_pathogenic | 0.9675 | pathogenic | -1.617 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/P | 0.9922 | likely_pathogenic | 0.9929 | pathogenic | 0.075 | Stabilizing | 1.0 | D | 0.853 | deleterious | D | 0.546424933 | None | None | N |
| A/Q | 0.9818 | likely_pathogenic | 0.9813 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/R | 0.9844 | likely_pathogenic | 0.9849 | pathogenic | -1.441 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| A/S | 0.3878 | ambiguous | 0.3422 | ambiguous | -2.018 | Highly Destabilizing | 1.0 | D | 0.591 | neutral | D | 0.546559227 | None | None | N |
| A/T | 0.5119 | ambiguous | 0.4658 | ambiguous | -1.61 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.548792678 | None | None | N |
| A/V | 0.5318 | ambiguous | 0.5004 | ambiguous | 0.075 | Stabilizing | 1.0 | D | 0.632 | neutral | D | 0.524815303 | None | None | N |
| A/W | 0.9963 | likely_pathogenic | 0.9944 | pathogenic | -1.415 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/Y | 0.984 | likely_pathogenic | 0.9793 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.873 | 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.