Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17276 | 52051;52052;52053 | chr2:178609484;178609483;178609482 | chr2:179474211;179474210;179474209 |
| N2AB | 15635 | 47128;47129;47130 | chr2:178609484;178609483;178609482 | chr2:179474211;179474210;179474209 |
| N2A | 14708 | 44347;44348;44349 | chr2:178609484;178609483;178609482 | chr2:179474211;179474210;179474209 |
| N2B | 8211 | 24856;24857;24858 | chr2:178609484;178609483;178609482 | chr2:179474211;179474210;179474209 |
| Novex-1 | 8336 | 25231;25232;25233 | chr2:178609484;178609483;178609482 | chr2:179474211;179474210;179474209 |
| Novex-2 | 8403 | 25432;25433;25434 | chr2:178609484;178609483;178609482 | chr2:179474211;179474210;179474209 |
| 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/D | None | None | 0.997 | N | 0.718 | 0.582 | 0.714657058785 | gnomAD-4.0.0 | 6.84695E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99905E-07 | 0 | 0 |
| Y/H | None | None | 0.998 | N | 0.593 | 0.343 | 0.429320821379 | gnomAD-4.0.0 | 6.84695E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99905E-07 | 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 | 0.6348 | likely_pathogenic | 0.6314 | pathogenic | -1.51 | Destabilizing | 0.992 | D | 0.625 | neutral | None | None | None | None | I |
| Y/C | 0.3218 | likely_benign | 0.3312 | benign | -0.506 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.53122996 | None | None | I |
| Y/D | 0.5275 | ambiguous | 0.5377 | ambiguous | 0.534 | Stabilizing | 0.997 | D | 0.718 | prob.delet. | N | 0.469543996 | None | None | I |
| Y/E | 0.7766 | likely_pathogenic | 0.7814 | pathogenic | 0.59 | Stabilizing | 0.983 | D | 0.613 | neutral | None | None | None | None | I |
| Y/F | 0.1311 | likely_benign | 0.1306 | benign | -0.604 | Destabilizing | 0.998 | D | 0.547 | neutral | N | 0.493615722 | None | None | I |
| Y/G | 0.7568 | likely_pathogenic | 0.759 | pathogenic | -1.785 | Destabilizing | 0.999 | D | 0.688 | prob.neutral | None | None | None | None | I |
| Y/H | 0.3817 | ambiguous | 0.3907 | ambiguous | -0.434 | Destabilizing | 0.998 | D | 0.593 | neutral | N | 0.512028124 | None | None | I |
| Y/I | 0.6052 | likely_pathogenic | 0.6163 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | I |
| Y/K | 0.7721 | likely_pathogenic | 0.7738 | pathogenic | -0.502 | Destabilizing | 0.995 | D | 0.624 | neutral | None | None | None | None | I |
| Y/L | 0.5571 | ambiguous | 0.5513 | ambiguous | -0.73 | Destabilizing | 0.996 | D | 0.605 | neutral | None | None | None | None | I |
| Y/M | 0.7348 | likely_pathogenic | 0.7329 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.614 | neutral | None | None | None | None | I |
| Y/N | 0.3986 | ambiguous | 0.4157 | ambiguous | -0.755 | Destabilizing | 0.998 | D | 0.706 | prob.neutral | N | 0.511334691 | None | None | I |
| Y/P | 0.6784 | likely_pathogenic | 0.6573 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | I |
| Y/Q | 0.7223 | likely_pathogenic | 0.7323 | pathogenic | -0.625 | Destabilizing | 0.914 | D | 0.389 | neutral | None | None | None | None | I |
| Y/R | 0.6263 | likely_pathogenic | 0.6347 | pathogenic | -0.24 | Destabilizing | 0.998 | D | 0.705 | prob.neutral | None | None | None | None | I |
| Y/S | 0.3596 | ambiguous | 0.3751 | ambiguous | -1.341 | Destabilizing | 0.997 | D | 0.626 | neutral | N | 0.473816453 | None | None | I |
| Y/T | 0.6572 | likely_pathogenic | 0.6573 | pathogenic | -1.188 | Destabilizing | 0.999 | D | 0.692 | prob.neutral | None | None | None | None | I |
| Y/V | 0.5011 | ambiguous | 0.5043 | ambiguous | -0.977 | Destabilizing | 0.999 | D | 0.605 | neutral | None | None | None | None | I |
| Y/W | 0.5047 | ambiguous | 0.5031 | ambiguous | -0.426 | Destabilizing | 1.0 | D | 0.575 | neutral | None | None | None | None | I |
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.