Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26889 | 80890;80891;80892 | chr2:178565467;178565466;178565465 | chr2:179430194;179430193;179430192 |
| N2AB | 25248 | 75967;75968;75969 | chr2:178565467;178565466;178565465 | chr2:179430194;179430193;179430192 |
| N2A | 24321 | 73186;73187;73188 | chr2:178565467;178565466;178565465 | chr2:179430194;179430193;179430192 |
| N2B | 17824 | 53695;53696;53697 | chr2:178565467;178565466;178565465 | chr2:179430194;179430193;179430192 |
| Novex-1 | 17949 | 54070;54071;54072 | chr2:178565467;178565466;178565465 | chr2:179430194;179430193;179430192 |
| Novex-2 | 18016 | 54271;54272;54273 | chr2:178565467;178565466;178565465 | chr2:179430194;179430193;179430192 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs571328201  |
-1.299 | 1.0 | N | 0.727 | 0.4 | None | gnomAD-2.1.1 | 1.17934E-04 | None | None | None | None | N | None | 4.14E-05 | 2.84E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.42218E-04 | 0 |
| Y/C | rs571328201 |
-1.299 | 1.0 | N | 0.727 | 0.4 | None | gnomAD-3.1.2 | 1.24913E-04 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.35315E-04 | 0 | 0 |
| Y/C | rs571328201 |
-1.299 | 1.0 | N | 0.727 | 0.4 | None | gnomAD-4.0.0 | 1.20255E-04 | None | None | None | None | N | None | 4.00759E-05 | 1.669E-05 | None | 3.38066E-05 | 0 | None | 7.81226E-05 | 0 | 1.53442E-04 | 0 | 4.80523E-05 |
| Y/F | rs571328201 |
-0.768 | 0.117 | N | 0.317 | 0.166 | 0.322786055943 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| Y/F | rs571328201 |
-0.768 | 0.117 | N | 0.317 | 0.166 | 0.322786055943 | gnomAD-4.0.0 | 2.73761E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.5984E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.7648 | likely_pathogenic | 0.7926 | pathogenic | -2.004 | Highly Destabilizing | 0.991 | D | 0.616 | neutral | None | None | None | None | N |
| Y/C | 0.1798 | likely_benign | 0.1983 | benign | -1.352 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.489073371 | None | None | N |
| Y/D | 0.9455 | likely_pathogenic | 0.9411 | pathogenic | -1.124 | Destabilizing | 0.999 | D | 0.759 | deleterious | N | 0.498619251 | None | None | N |
| Y/E | 0.9728 | likely_pathogenic | 0.9737 | pathogenic | -0.938 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | None | N |
| Y/F | 0.0776 | likely_benign | 0.0818 | benign | -0.528 | Destabilizing | 0.117 | N | 0.317 | neutral | N | 0.470104144 | None | None | N |
| Y/G | 0.8715 | likely_pathogenic | 0.8831 | pathogenic | -2.388 | Highly Destabilizing | 0.998 | D | 0.729 | prob.delet. | None | None | None | None | N |
| Y/H | 0.5002 | ambiguous | 0.5028 | ambiguous | -0.959 | Destabilizing | 0.999 | D | 0.657 | neutral | N | 0.498619251 | None | None | N |
| Y/I | 0.4732 | ambiguous | 0.5006 | ambiguous | -0.795 | Destabilizing | 0.99 | D | 0.652 | neutral | None | None | None | None | N |
| Y/K | 0.9397 | likely_pathogenic | 0.9483 | pathogenic | -1.456 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | None | None | None | None | N |
| Y/L | 0.5849 | likely_pathogenic | 0.5975 | pathogenic | -0.795 | Destabilizing | 0.966 | D | 0.472 | neutral | None | None | None | None | N |
| Y/M | 0.7271 | likely_pathogenic | 0.7388 | pathogenic | -0.791 | Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | N |
| Y/N | 0.7858 | likely_pathogenic | 0.7728 | pathogenic | -2.123 | Highly Destabilizing | 0.999 | D | 0.748 | deleterious | N | 0.502151197 | None | None | N |
| Y/P | 0.9888 | likely_pathogenic | 0.9876 | pathogenic | -1.201 | Destabilizing | 0.999 | D | 0.763 | deleterious | None | None | None | None | N |
| Y/Q | 0.8986 | likely_pathogenic | 0.9026 | pathogenic | -1.787 | Destabilizing | 0.999 | D | 0.698 | prob.neutral | None | None | None | None | N |
| Y/R | 0.8546 | likely_pathogenic | 0.8667 | pathogenic | -1.42 | Destabilizing | 0.999 | D | 0.749 | deleterious | None | None | None | None | N |
| Y/S | 0.647 | likely_pathogenic | 0.6385 | pathogenic | -2.671 | Highly Destabilizing | 0.997 | D | 0.711 | prob.delet. | D | 0.534846269 | None | None | N |
| Y/T | 0.7687 | likely_pathogenic | 0.7725 | pathogenic | -2.364 | Highly Destabilizing | 0.998 | D | 0.716 | prob.delet. | None | None | None | None | N |
| Y/V | 0.3598 | ambiguous | 0.3794 | ambiguous | -1.201 | Destabilizing | 0.983 | D | 0.596 | neutral | None | None | None | None | N |
| Y/W | 0.4392 | ambiguous | 0.4369 | ambiguous | 0.023 | Stabilizing | 1.0 | D | 0.645 | neutral | 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.