Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35303 | 106132;106133;106134 | chr2:178530708;178530707;178530706 | chr2:179395435;179395434;179395433 |
| N2AB | 33662 | 101209;101210;101211 | chr2:178530708;178530707;178530706 | chr2:179395435;179395434;179395433 |
| N2A | 32735 | 98428;98429;98430 | chr2:178530708;178530707;178530706 | chr2:179395435;179395434;179395433 |
| N2B | 26238 | 78937;78938;78939 | chr2:178530708;178530707;178530706 | chr2:179395435;179395434;179395433 |
| Novex-1 | 26363 | 79312;79313;79314 | chr2:178530708;178530707;178530706 | chr2:179395435;179395434;179395433 |
| Novex-2 | 26430 | 79513;79514;79515 | chr2:178530708;178530707;178530706 | chr2:179395435;179395434;179395433 |
| 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/P | rs369198301  |
-1.683 | 0.995 | D | 0.906 | 0.85 | None | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| L/P | rs369198301 |
-1.683 | 0.995 | D | 0.906 | 0.85 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/P | rs369198301 |
-1.683 | 0.995 | D | 0.906 | 0.85 | None | gnomAD-4.0.0 | 3.84254E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.17724E-06 | 0 | 0 |
| L/V | None | None | 0.64 | D | 0.567 | 0.385 | 0.620567169836 | gnomAD-4.0.0 | 3.18191E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.7152E-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 | 0.9039 | likely_pathogenic | 0.8919 | pathogenic | -2.554 | Highly Destabilizing | 0.919 | D | 0.741 | deleterious | None | None | None | None | N |
| L/C | 0.9156 | likely_pathogenic | 0.8981 | pathogenic | -1.848 | Destabilizing | 0.999 | D | 0.775 | deleterious | None | None | None | None | N |
| L/D | 0.998 | likely_pathogenic | 0.9963 | pathogenic | -3.345 | Highly Destabilizing | 0.996 | D | 0.907 | deleterious | None | None | None | None | N |
| L/E | 0.9885 | likely_pathogenic | 0.9812 | pathogenic | -3.014 | Highly Destabilizing | 0.988 | D | 0.905 | deleterious | None | None | None | None | N |
| L/F | 0.2438 | likely_benign | 0.2158 | benign | -1.563 | Destabilizing | 0.976 | D | 0.695 | prob.neutral | None | None | None | None | N |
| L/G | 0.9757 | likely_pathogenic | 0.9679 | pathogenic | -3.168 | Highly Destabilizing | 0.988 | D | 0.899 | deleterious | None | None | None | None | N |
| L/H | 0.9697 | likely_pathogenic | 0.948 | pathogenic | -3.002 | Highly Destabilizing | 0.999 | D | 0.9 | deleterious | None | None | None | None | N |
| L/I | 0.142 | likely_benign | 0.1378 | benign | -0.702 | Destabilizing | 0.132 | N | 0.305 | neutral | None | None | None | None | N |
| L/K | 0.9827 | likely_pathogenic | 0.9702 | pathogenic | -1.986 | Destabilizing | 0.988 | D | 0.869 | deleterious | None | None | None | None | N |
| L/M | 0.186 | likely_benign | 0.1773 | benign | -0.928 | Destabilizing | 0.251 | N | 0.306 | neutral | D | 0.540180638 | None | None | N |
| L/N | 0.989 | likely_pathogenic | 0.982 | pathogenic | -2.735 | Highly Destabilizing | 0.996 | D | 0.905 | deleterious | None | None | None | None | N |
| L/P | 0.9965 | likely_pathogenic | 0.9927 | pathogenic | -1.311 | Destabilizing | 0.995 | D | 0.906 | deleterious | D | 0.615219823 | None | None | N |
| L/Q | 0.9587 | likely_pathogenic | 0.9351 | pathogenic | -2.339 | Highly Destabilizing | 0.984 | D | 0.892 | deleterious | D | 0.615219822 | None | None | N |
| L/R | 0.9695 | likely_pathogenic | 0.9492 | pathogenic | -2.179 | Highly Destabilizing | 0.984 | D | 0.889 | deleterious | D | 0.615219822 | None | None | N |
| L/S | 0.9844 | likely_pathogenic | 0.9771 | pathogenic | -3.262 | Highly Destabilizing | 0.988 | D | 0.859 | deleterious | None | None | None | None | N |
| L/T | 0.9534 | likely_pathogenic | 0.9411 | pathogenic | -2.756 | Highly Destabilizing | 0.976 | D | 0.779 | deleterious | None | None | None | None | N |
| L/V | 0.2326 | likely_benign | 0.2268 | benign | -1.311 | Destabilizing | 0.64 | D | 0.567 | neutral | D | 0.548508205 | None | None | N |
| L/W | 0.8418 | likely_pathogenic | 0.7503 | pathogenic | -1.973 | Destabilizing | 0.999 | D | 0.878 | deleterious | None | None | None | None | N |
| L/Y | 0.8331 | likely_pathogenic | 0.7605 | pathogenic | -1.742 | Destabilizing | 0.988 | D | 0.773 | 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.