Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20872 | 62839;62840;62841 | chr2:178589111;178589110;178589109 | chr2:179453838;179453837;179453836 |
| N2AB | 19231 | 57916;57917;57918 | chr2:178589111;178589110;178589109 | chr2:179453838;179453837;179453836 |
| N2A | 18304 | 55135;55136;55137 | chr2:178589111;178589110;178589109 | chr2:179453838;179453837;179453836 |
| N2B | 11807 | 35644;35645;35646 | chr2:178589111;178589110;178589109 | chr2:179453838;179453837;179453836 |
| Novex-1 | 11932 | 36019;36020;36021 | chr2:178589111;178589110;178589109 | chr2:179453838;179453837;179453836 |
| Novex-2 | 11999 | 36220;36221;36222 | chr2:178589111;178589110;178589109 | chr2:179453838;179453837;179453836 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | None | None | 0.989 | N | 0.523 | 0.356 | 0.339555952218 | gnomAD-4.0.0 | 6.85142E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15947E-05 | 0 |
| K/I | None | None | 0.999 | N | 0.842 | 0.409 | 0.603539076606 | gnomAD-4.0.0 | 3.1928E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86582E-05 | 0 |
| K/Q | rs759762547  |
0.055 | 0.997 | N | 0.658 | 0.346 | 0.221019684889 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| K/Q | rs759762547 |
0.055 | 0.997 | N | 0.658 | 0.346 | 0.221019684889 | 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 |
| K/Q | rs759762547 |
0.055 | 0.997 | N | 0.658 | 0.346 | 0.221019684889 | gnomAD-4.0.0 | 8.06644E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.10208E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3309 | likely_benign | 0.353 | ambiguous | -0.312 | Destabilizing | 0.996 | D | 0.614 | neutral | None | None | None | None | N |
| K/C | 0.5171 | ambiguous | 0.558 | ambiguous | -0.462 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| K/D | 0.4986 | ambiguous | 0.5392 | ambiguous | -0.01 | Destabilizing | 0.999 | D | 0.799 | deleterious | None | None | None | None | N |
| K/E | 0.1792 | likely_benign | 0.1881 | benign | 0.088 | Stabilizing | 0.989 | D | 0.523 | neutral | N | 0.474845455 | None | None | N |
| K/F | 0.7499 | likely_pathogenic | 0.77 | pathogenic | -0.051 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| K/G | 0.4769 | ambiguous | 0.495 | ambiguous | -0.654 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | None | N |
| K/H | 0.1982 | likely_benign | 0.2143 | benign | -0.96 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| K/I | 0.3922 | ambiguous | 0.4123 | ambiguous | 0.554 | Stabilizing | 0.999 | D | 0.842 | deleterious | N | 0.470865487 | None | None | N |
| K/L | 0.3844 | ambiguous | 0.3994 | ambiguous | 0.554 | Stabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | None | N |
| K/M | 0.2636 | likely_benign | 0.2806 | benign | 0.245 | Stabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| K/N | 0.3451 | ambiguous | 0.3702 | ambiguous | -0.361 | Destabilizing | 0.998 | D | 0.671 | neutral | N | 0.479904387 | None | None | N |
| K/P | 0.9392 | likely_pathogenic | 0.9359 | pathogenic | 0.296 | Stabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| K/Q | 0.1027 | likely_benign | 0.1063 | benign | -0.385 | Destabilizing | 0.997 | D | 0.658 | neutral | N | 0.486003811 | None | None | N |
| K/R | 0.0736 | likely_benign | 0.0721 | benign | -0.524 | Destabilizing | 0.217 | N | 0.248 | neutral | N | 0.45835585 | None | None | N |
| K/S | 0.3403 | ambiguous | 0.3716 | ambiguous | -0.919 | Destabilizing | 0.996 | D | 0.615 | neutral | None | None | None | None | N |
| K/T | 0.1572 | likely_benign | 0.1693 | benign | -0.623 | Destabilizing | 0.998 | D | 0.768 | deleterious | N | 0.466647259 | None | None | N |
| K/V | 0.3122 | likely_benign | 0.3393 | benign | 0.296 | Stabilizing | 0.999 | D | 0.823 | deleterious | None | None | None | None | N |
| K/W | 0.7292 | likely_pathogenic | 0.7481 | pathogenic | 0.001 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| K/Y | 0.5952 | likely_pathogenic | 0.63 | pathogenic | 0.299 | Stabilizing | 1.0 | D | 0.837 | 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.