Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22072 | 66439;66440;66441 | chr2:178582155;178582154;178582153 | chr2:179446882;179446881;179446880 |
| N2AB | 20431 | 61516;61517;61518 | chr2:178582155;178582154;178582153 | chr2:179446882;179446881;179446880 |
| N2A | 19504 | 58735;58736;58737 | chr2:178582155;178582154;178582153 | chr2:179446882;179446881;179446880 |
| N2B | 13007 | 39244;39245;39246 | chr2:178582155;178582154;178582153 | chr2:179446882;179446881;179446880 |
| Novex-1 | 13132 | 39619;39620;39621 | chr2:178582155;178582154;178582153 | chr2:179446882;179446881;179446880 |
| Novex-2 | 13199 | 39820;39821;39822 | chr2:178582155;178582154;178582153 | chr2:179446882;179446881;179446880 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/L | None | None | 0.927 | N | 0.439 | 0.314 | 0.395143324098 | gnomAD-4.0.0 | 1.59359E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43324E-05 | 0 |
| M/R | rs201420486  |
-1.27 | 0.998 | N | 0.811 | 0.616 | 0.642102269157 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| M/R | rs201420486 |
-1.27 | 0.998 | N | 0.811 | 0.616 | 0.642102269157 | gnomAD-4.0.0 | 7.53107E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89634E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.863 | likely_pathogenic | 0.8622 | pathogenic | -2.026 | Highly Destabilizing | 0.989 | D | 0.666 | neutral | None | None | None | None | N |
| M/C | 0.8266 | likely_pathogenic | 0.8343 | pathogenic | -2.371 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| M/D | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.344 | Highly Destabilizing | 0.999 | D | 0.81 | deleterious | None | None | None | None | N |
| M/E | 0.9963 | likely_pathogenic | 0.9947 | pathogenic | -2.117 | Highly Destabilizing | 0.999 | D | 0.788 | deleterious | None | None | None | None | N |
| M/F | 0.8617 | likely_pathogenic | 0.8621 | pathogenic | -0.559 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| M/G | 0.9909 | likely_pathogenic | 0.9884 | pathogenic | -2.454 | Highly Destabilizing | 0.995 | D | 0.771 | deleterious | None | None | None | None | N |
| M/H | 0.9974 | likely_pathogenic | 0.996 | pathogenic | -2.223 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| M/I | 0.8391 | likely_pathogenic | 0.8304 | pathogenic | -0.792 | Destabilizing | 0.985 | D | 0.628 | neutral | N | 0.448493068 | None | None | N |
| M/K | 0.9915 | likely_pathogenic | 0.9837 | pathogenic | -1.389 | Destabilizing | 0.994 | D | 0.779 | deleterious | N | 0.502760994 | None | None | N |
| M/L | 0.585 | likely_pathogenic | 0.5809 | pathogenic | -0.792 | Destabilizing | 0.927 | D | 0.439 | neutral | N | 0.463521235 | None | None | N |
| M/N | 0.9965 | likely_pathogenic | 0.9947 | pathogenic | -1.822 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | N |
| M/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.188 | Destabilizing | 0.999 | D | 0.793 | deleterious | None | None | None | None | N |
| M/Q | 0.9558 | likely_pathogenic | 0.935 | pathogenic | -1.484 | Destabilizing | 0.999 | D | 0.728 | prob.delet. | None | None | None | None | N |
| M/R | 0.9918 | likely_pathogenic | 0.9851 | pathogenic | -1.613 | Destabilizing | 0.998 | D | 0.811 | deleterious | N | 0.502760994 | None | None | N |
| M/S | 0.9726 | likely_pathogenic | 0.9661 | pathogenic | -2.257 | Highly Destabilizing | 0.995 | D | 0.743 | deleterious | None | None | None | None | N |
| M/T | 0.9689 | likely_pathogenic | 0.9559 | pathogenic | -1.913 | Destabilizing | 0.994 | D | 0.77 | deleterious | N | 0.490897709 | None | None | N |
| M/V | 0.3959 | ambiguous | 0.3666 | ambiguous | -1.188 | Destabilizing | 0.985 | D | 0.539 | neutral | N | 0.404355501 | None | None | N |
| M/W | 0.9974 | likely_pathogenic | 0.9963 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| M/Y | 0.9926 | likely_pathogenic | 0.99 | pathogenic | -0.911 | Destabilizing | 0.999 | D | 0.811 | 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.