Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2412 | 7459;7460;7461 | chr2:178773934;178773933;178773932 | chr2:179638661;179638660;179638659 |
| N2AB | 2412 | 7459;7460;7461 | chr2:178773934;178773933;178773932 | chr2:179638661;179638660;179638659 |
| N2A | 2412 | 7459;7460;7461 | chr2:178773934;178773933;178773932 | chr2:179638661;179638660;179638659 |
| N2B | 2366 | 7321;7322;7323 | chr2:178773934;178773933;178773932 | chr2:179638661;179638660;179638659 |
| Novex-1 | 2366 | 7321;7322;7323 | chr2:178773934;178773933;178773932 | chr2:179638661;179638660;179638659 |
| Novex-2 | 2366 | 7321;7322;7323 | chr2:178773934;178773933;178773932 | chr2:179638661;179638660;179638659 |
| Novex-3 | 2412 | 7459;7460;7461 | chr2:178773934;178773933;178773932 | chr2:179638661;179638660;179638659 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/M | None | None | 1.0 | D | 0.787 | 0.607 | 0.941346318489 | gnomAD-4.0.0 | 1.59053E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8566E-06 | 0 | 0 |
| L/R | None | None | 1.0 | D | 0.907 | 0.962 | 0.95519357536 | gnomAD-4.0.0 | 1.59052E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8566E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9753 | likely_pathogenic | 0.9756 | pathogenic | -2.469 | Highly Destabilizing | 0.999 | D | 0.757 | deleterious | None | None | None | None | N |
| L/C | 0.9522 | likely_pathogenic | 0.9502 | pathogenic | -1.602 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| L/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.378 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| L/E | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -3.065 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| L/F | 0.8667 | likely_pathogenic | 0.8554 | pathogenic | -1.571 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| L/G | 0.9971 | likely_pathogenic | 0.9971 | pathogenic | -3.038 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| L/H | 0.9967 | likely_pathogenic | 0.9969 | pathogenic | -2.824 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| L/I | 0.4602 | ambiguous | 0.4464 | ambiguous | -0.755 | Destabilizing | 0.999 | D | 0.647 | neutral | None | None | None | None | N |
| L/K | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -2.066 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| L/M | 0.5388 | ambiguous | 0.5307 | ambiguous | -0.831 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.678860733 | None | None | N |
| L/N | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -2.832 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| L/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.318 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.711502745 | None | None | N |
| L/Q | 0.9944 | likely_pathogenic | 0.9947 | pathogenic | -2.462 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.711502745 | None | None | N |
| L/R | 0.9949 | likely_pathogenic | 0.9952 | pathogenic | -2.196 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.711502745 | None | None | N |
| L/S | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -3.283 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| L/T | 0.9946 | likely_pathogenic | 0.9947 | pathogenic | -2.809 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| L/V | 0.5054 | ambiguous | 0.4927 | ambiguous | -1.318 | Destabilizing | 0.999 | D | 0.65 | neutral | D | 0.678493401 | None | None | N |
| L/W | 0.9927 | likely_pathogenic | 0.9929 | pathogenic | -1.974 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| L/Y | 0.9868 | likely_pathogenic | 0.9866 | pathogenic | -1.73 | Destabilizing | 1.0 | D | 0.857 | 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.