Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20135 | 60628;60629;60630 | chr2:178591322;178591321;178591320 | chr2:179456049;179456048;179456047 |
| N2AB | 18494 | 55705;55706;55707 | chr2:178591322;178591321;178591320 | chr2:179456049;179456048;179456047 |
| N2A | 17567 | 52924;52925;52926 | chr2:178591322;178591321;178591320 | chr2:179456049;179456048;179456047 |
| N2B | 11070 | 33433;33434;33435 | chr2:178591322;178591321;178591320 | chr2:179456049;179456048;179456047 |
| Novex-1 | 11195 | 33808;33809;33810 | chr2:178591322;178591321;178591320 | chr2:179456049;179456048;179456047 |
| Novex-2 | 11262 | 34009;34010;34011 | chr2:178591322;178591321;178591320 | chr2:179456049;179456048;179456047 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.998 | N | 0.543 | 0.327 | 0.666230076168 | gnomAD-4.0.0 | 1.59217E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8602E-06 | 0 | 0 |
| V/I | None | None | 0.767 | N | 0.373 | 0.23 | 0.573918482621 | gnomAD-4.0.0 | 2.05317E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79933E-06 | 1.16007E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3314 | likely_benign | 0.3401 | ambiguous | -1.939 | Destabilizing | 0.998 | D | 0.543 | neutral | N | 0.51320156 | None | None | N |
| V/C | 0.784 | likely_pathogenic | 0.7793 | pathogenic | -1.702 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| V/D | 0.6586 | likely_pathogenic | 0.6761 | pathogenic | -2.351 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| V/E | 0.5054 | ambiguous | 0.5114 | ambiguous | -2.183 | Highly Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.506582232 | None | None | N |
| V/F | 0.2177 | likely_benign | 0.2133 | benign | -1.218 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| V/G | 0.4753 | ambiguous | 0.4811 | ambiguous | -2.428 | Highly Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.523957271 | None | None | N |
| V/H | 0.6927 | likely_pathogenic | 0.6987 | pathogenic | -2.113 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| V/I | 0.0735 | likely_benign | 0.0709 | benign | -0.603 | Destabilizing | 0.767 | D | 0.373 | neutral | N | 0.474741959 | None | None | N |
| V/K | 0.5947 | likely_pathogenic | 0.614 | pathogenic | -1.503 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| V/L | 0.2137 | likely_benign | 0.2054 | benign | -0.603 | Destabilizing | 0.981 | D | 0.483 | neutral | N | 0.488767262 | None | None | N |
| V/M | 0.1493 | likely_benign | 0.139 | benign | -0.781 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| V/N | 0.4087 | ambiguous | 0.4143 | ambiguous | -1.706 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| V/P | 0.9821 | likely_pathogenic | 0.9845 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| V/Q | 0.4907 | ambiguous | 0.5024 | ambiguous | -1.639 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| V/R | 0.5571 | ambiguous | 0.5792 | pathogenic | -1.287 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| V/S | 0.3305 | likely_benign | 0.3369 | benign | -2.344 | Highly Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| V/T | 0.2186 | likely_benign | 0.2169 | benign | -2.038 | Highly Destabilizing | 0.998 | D | 0.629 | neutral | None | None | None | None | N |
| V/W | 0.8814 | likely_pathogenic | 0.8686 | pathogenic | -1.643 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| V/Y | 0.6136 | likely_pathogenic | 0.6023 | pathogenic | -1.272 | Destabilizing | 1.0 | D | 0.786 | 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.