Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18639 | 56140;56141;56142 | chr2:178600989;178600988;178600987 | chr2:179465716;179465715;179465714 |
| N2AB | 16998 | 51217;51218;51219 | chr2:178600989;178600988;178600987 | chr2:179465716;179465715;179465714 |
| N2A | 16071 | 48436;48437;48438 | chr2:178600989;178600988;178600987 | chr2:179465716;179465715;179465714 |
| N2B | 9574 | 28945;28946;28947 | chr2:178600989;178600988;178600987 | chr2:179465716;179465715;179465714 |
| Novex-1 | 9699 | 29320;29321;29322 | chr2:178600989;178600988;178600987 | chr2:179465716;179465715;179465714 |
| Novex-2 | 9766 | 29521;29522;29523 | chr2:178600989;178600988;178600987 | chr2:179465716;179465715;179465714 |
| 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 | rs368701590  |
-2.148 | 0.999 | N | 0.569 | 0.395 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| V/A | rs368701590 |
-2.148 | 0.999 | N | 0.569 | 0.395 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs368701590 |
-2.148 | 0.999 | N | 0.569 | 0.395 | None | gnomAD-4.0.0 | 3.84667E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.18604E-06 | 0 | 0 |
| V/M | rs727503596 |
-0.715 | 1.0 | N | 0.724 | 0.352 | None | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 1.29182E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/M | rs727503596 |
-0.715 | 1.0 | N | 0.724 | 0.352 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 1.4483E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs727503596 |
-0.715 | 1.0 | N | 0.724 | 0.352 | None | gnomAD-4.0.0 | 6.81981E-06 | None | None | None | None | N | None | 1.06875E-04 | 1.66839E-05 | None | 0 | 0 | None | 0 | 0 | 1.69583E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5611 | ambiguous | 0.5394 | ambiguous | -1.976 | Destabilizing | 0.999 | D | 0.569 | neutral | N | 0.506955086 | None | None | N |
| V/C | 0.887 | likely_pathogenic | 0.8897 | pathogenic | -1.415 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| V/D | 0.9551 | likely_pathogenic | 0.9525 | pathogenic | -2.955 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/E | 0.8968 | likely_pathogenic | 0.8825 | pathogenic | -2.734 | Highly Destabilizing | 1.0 | D | 0.78 | deleterious | N | 0.497675793 | None | None | N |
| V/F | 0.7606 | likely_pathogenic | 0.7326 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| V/G | 0.7767 | likely_pathogenic | 0.7944 | pathogenic | -2.489 | Highly Destabilizing | 1.0 | D | 0.796 | deleterious | N | 0.454584826 | None | None | N |
| V/H | 0.9724 | likely_pathogenic | 0.9643 | pathogenic | -2.43 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| V/I | 0.106 | likely_benign | 0.088 | benign | -0.533 | Destabilizing | 0.998 | D | 0.507 | neutral | None | None | None | None | N |
| V/K | 0.9038 | likely_pathogenic | 0.8971 | pathogenic | -1.647 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| V/L | 0.5999 | likely_pathogenic | 0.5586 | ambiguous | -0.533 | Destabilizing | 0.997 | D | 0.555 | neutral | N | 0.507091159 | None | None | N |
| V/M | 0.4622 | ambiguous | 0.4107 | ambiguous | -0.594 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | N | 0.476826514 | None | None | N |
| V/N | 0.8936 | likely_pathogenic | 0.8651 | pathogenic | -1.992 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| V/P | 0.9499 | likely_pathogenic | 0.9553 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| V/Q | 0.898 | likely_pathogenic | 0.8797 | pathogenic | -1.821 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| V/R | 0.8604 | likely_pathogenic | 0.8598 | pathogenic | -1.521 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/S | 0.7903 | likely_pathogenic | 0.757 | pathogenic | -2.492 | Highly Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| V/T | 0.5055 | ambiguous | 0.4786 | ambiguous | -2.146 | Highly Destabilizing | 0.999 | D | 0.612 | neutral | None | None | None | None | N |
| V/W | 0.9868 | likely_pathogenic | 0.9849 | pathogenic | -1.773 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| V/Y | 0.9629 | likely_pathogenic | 0.9558 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.808 | 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.