Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20040 | 60343;60344;60345 | chr2:178591701;178591700;178591699 | chr2:179456428;179456427;179456426 |
| N2AB | 18399 | 55420;55421;55422 | chr2:178591701;178591700;178591699 | chr2:179456428;179456427;179456426 |
| N2A | 17472 | 52639;52640;52641 | chr2:178591701;178591700;178591699 | chr2:179456428;179456427;179456426 |
| N2B | 10975 | 33148;33149;33150 | chr2:178591701;178591700;178591699 | chr2:179456428;179456427;179456426 |
| Novex-1 | 11100 | 33523;33524;33525 | chr2:178591701;178591700;178591699 | chr2:179456428;179456427;179456426 |
| Novex-2 | 11167 | 33724;33725;33726 | chr2:178591701;178591700;178591699 | chr2:179456428;179456427;179456426 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/I | rs1209430010  |
-0.869 | 0.999 | D | 0.842 | 0.607 | 0.775310381784 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65618E-04 |
| L/I | rs1209430010 |
-0.869 | 0.999 | D | 0.842 | 0.607 | 0.775310381784 | gnomAD-4.0.0 | 6.84337E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73611E-04 | 0 | 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 | 0.9771 | likely_pathogenic | 0.9808 | pathogenic | -2.484 | Highly Destabilizing | 0.999 | D | 0.835 | deleterious | None | None | None | None | N |
| L/C | 0.934 | likely_pathogenic | 0.9673 | pathogenic | -1.983 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| L/D | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.331 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| L/E | 0.9966 | likely_pathogenic | 0.9968 | pathogenic | -2.115 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| L/F | 0.901 | likely_pathogenic | 0.9023 | pathogenic | -1.546 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| L/G | 0.9923 | likely_pathogenic | 0.994 | pathogenic | -3.036 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| L/H | 0.9905 | likely_pathogenic | 0.9926 | pathogenic | -2.349 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| L/I | 0.5536 | ambiguous | 0.5322 | ambiguous | -0.903 | Destabilizing | 0.999 | D | 0.842 | deleterious | D | 0.618695113 | None | None | N |
| L/K | 0.9899 | likely_pathogenic | 0.9903 | pathogenic | -1.813 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| L/M | 0.6065 | likely_pathogenic | 0.6194 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| L/N | 0.9934 | likely_pathogenic | 0.9955 | pathogenic | -2.096 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| L/P | 0.9957 | likely_pathogenic | 0.9965 | pathogenic | -1.408 | Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.662068824 | None | None | N |
| L/Q | 0.983 | likely_pathogenic | 0.9848 | pathogenic | -1.975 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.620511352 | None | None | N |
| L/R | 0.9796 | likely_pathogenic | 0.9816 | pathogenic | -1.523 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.645817299 | None | None | N |
| L/S | 0.9962 | likely_pathogenic | 0.9973 | pathogenic | -2.901 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| L/T | 0.98 | likely_pathogenic | 0.9837 | pathogenic | -2.52 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| L/V | 0.6551 | likely_pathogenic | 0.6435 | pathogenic | -1.408 | Destabilizing | 0.999 | D | 0.853 | deleterious | D | 0.575158882 | None | None | N |
| L/W | 0.989 | likely_pathogenic | 0.9902 | pathogenic | -1.802 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| L/Y | 0.9908 | likely_pathogenic | 0.9921 | pathogenic | -1.533 | Destabilizing | 1.0 | D | 0.833 | 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.