Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23188 | 69787;69788;69789 | chr2:178576682;178576681;178576680 | chr2:179441409;179441408;179441407 |
| N2AB | 21547 | 64864;64865;64866 | chr2:178576682;178576681;178576680 | chr2:179441409;179441408;179441407 |
| N2A | 20620 | 62083;62084;62085 | chr2:178576682;178576681;178576680 | chr2:179441409;179441408;179441407 |
| N2B | 14123 | 42592;42593;42594 | chr2:178576682;178576681;178576680 | chr2:179441409;179441408;179441407 |
| Novex-1 | 14248 | 42967;42968;42969 | chr2:178576682;178576681;178576680 | chr2:179441409;179441408;179441407 |
| Novex-2 | 14315 | 43168;43169;43170 | chr2:178576682;178576681;178576680 | chr2:179441409;179441408;179441407 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | None | None | 0.997 | N | 0.51 | 0.324 | 0.388812400583 | gnomAD-4.0.0 | 2.7371E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59829E-06 | 0 | 0 |
| R/T | None | None | 1.0 | N | 0.767 | 0.424 | 0.429552544315 | gnomAD-4.0.0 | 1.36855E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99573E-07 | 0 | 1.65684E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.7213 | likely_pathogenic | 0.7586 | pathogenic | -0.531 | Destabilizing | 0.999 | D | 0.65 | neutral | None | None | None | None | I |
| R/C | 0.3622 | ambiguous | 0.4074 | ambiguous | -0.485 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| R/D | 0.9393 | likely_pathogenic | 0.9527 | pathogenic | -0.001 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| R/E | 0.7648 | likely_pathogenic | 0.7946 | pathogenic | 0.127 | Stabilizing | 0.999 | D | 0.659 | neutral | None | None | None | None | I |
| R/F | 0.8695 | likely_pathogenic | 0.8937 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| R/G | 0.6257 | likely_pathogenic | 0.6839 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.490802939 | None | None | I |
| R/H | 0.1962 | likely_benign | 0.2378 | benign | -1.215 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| R/I | 0.7059 | likely_pathogenic | 0.7118 | pathogenic | 0.331 | Stabilizing | 1.0 | D | 0.791 | deleterious | D | 0.522175255 | None | None | I |
| R/K | 0.1335 | likely_benign | 0.1373 | benign | -0.648 | Destabilizing | 0.997 | D | 0.51 | neutral | N | 0.487907966 | None | None | I |
| R/L | 0.5163 | ambiguous | 0.5399 | ambiguous | 0.331 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| R/M | 0.6325 | likely_pathogenic | 0.643 | pathogenic | -0.084 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| R/N | 0.8886 | likely_pathogenic | 0.9063 | pathogenic | -0.143 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | I |
| R/P | 0.5237 | ambiguous | 0.5777 | pathogenic | 0.065 | Stabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| R/Q | 0.2028 | likely_benign | 0.228 | benign | -0.249 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| R/S | 0.8475 | likely_pathogenic | 0.8789 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.517305366 | None | None | I |
| R/T | 0.6597 | likely_pathogenic | 0.6952 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.484539586 | None | None | I |
| R/V | 0.7271 | likely_pathogenic | 0.7372 | pathogenic | 0.065 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| R/W | 0.3889 | ambiguous | 0.4442 | ambiguous | -0.01 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| R/Y | 0.7343 | likely_pathogenic | 0.7738 | pathogenic | 0.287 | Stabilizing | 1.0 | D | 0.789 | deleterious | 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.