Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29412 | 88459;88460;88461 | chr2:178556920;178556919;178556918 | chr2:179421647;179421646;179421645 |
| N2AB | 27771 | 83536;83537;83538 | chr2:178556920;178556919;178556918 | chr2:179421647;179421646;179421645 |
| N2A | 26844 | 80755;80756;80757 | chr2:178556920;178556919;178556918 | chr2:179421647;179421646;179421645 |
| N2B | 20347 | 61264;61265;61266 | chr2:178556920;178556919;178556918 | chr2:179421647;179421646;179421645 |
| Novex-1 | 20472 | 61639;61640;61641 | chr2:178556920;178556919;178556918 | chr2:179421647;179421646;179421645 |
| Novex-2 | 20539 | 61840;61841;61842 | chr2:178556920;178556919;178556918 | chr2:179421647;179421646;179421645 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | None | None | 1.0 | D | 0.713 | 0.584 | 0.764595348629 | gnomAD-4.0.0 | 6.84221E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99447E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8303 | likely_pathogenic | 0.7729 | pathogenic | -1.902 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| A/D | 0.9981 | likely_pathogenic | 0.9967 | pathogenic | -3.047 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.5857673 | None | None | N |
| A/E | 0.9962 | likely_pathogenic | 0.9939 | pathogenic | -2.816 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/F | 0.9911 | likely_pathogenic | 0.9836 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/G | 0.4903 | ambiguous | 0.3998 | ambiguous | -2.277 | Highly Destabilizing | 1.0 | D | 0.636 | neutral | D | 0.547530874 | None | None | N |
| A/H | 0.9965 | likely_pathogenic | 0.9941 | pathogenic | -2.231 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/I | 0.976 | likely_pathogenic | 0.9468 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| A/K | 0.9987 | likely_pathogenic | 0.998 | pathogenic | -1.553 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| A/L | 0.9142 | likely_pathogenic | 0.8832 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/M | 0.9737 | likely_pathogenic | 0.9494 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/N | 0.9943 | likely_pathogenic | 0.9892 | pathogenic | -2.039 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/P | 0.9815 | likely_pathogenic | 0.9695 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.567156066 | None | None | N |
| A/Q | 0.9868 | likely_pathogenic | 0.9813 | pathogenic | -1.782 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| A/R | 0.9928 | likely_pathogenic | 0.991 | pathogenic | -1.611 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/S | 0.2841 | likely_benign | 0.2051 | benign | -2.393 | Highly Destabilizing | 1.0 | D | 0.633 | neutral | D | 0.529324487 | None | None | N |
| A/T | 0.7527 | likely_pathogenic | 0.593 | pathogenic | -2.05 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.558001807 | None | None | N |
| A/V | 0.8693 | likely_pathogenic | 0.7543 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | D | 0.554785803 | None | None | N |
| A/W | 0.9991 | likely_pathogenic | 0.9987 | pathogenic | -1.539 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/Y | 0.9964 | likely_pathogenic | 0.994 | pathogenic | -1.216 | Destabilizing | 1.0 | D | 0.869 | 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.