Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32673 | 98242;98243;98244 | chr2:178540149;178540148;178540147 | chr2:179404876;179404875;179404874 |
| N2AB | 31032 | 93319;93320;93321 | chr2:178540149;178540148;178540147 | chr2:179404876;179404875;179404874 |
| N2A | 30105 | 90538;90539;90540 | chr2:178540149;178540148;178540147 | chr2:179404876;179404875;179404874 |
| N2B | 23608 | 71047;71048;71049 | chr2:178540149;178540148;178540147 | chr2:179404876;179404875;179404874 |
| Novex-1 | 23733 | 71422;71423;71424 | chr2:178540149;178540148;178540147 | chr2:179404876;179404875;179404874 |
| Novex-2 | 23800 | 71623;71624;71625 | chr2:178540149;178540148;178540147 | chr2:179404876;179404875;179404874 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/V | None | None | 1.0 | N | 0.772 | 0.538 | 0.798737761311 | gnomAD-4.0.0 | 1.59154E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43303E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.997 | likely_pathogenic | 0.9973 | pathogenic | -2.261 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| F/C | 0.9752 | likely_pathogenic | 0.9767 | pathogenic | -1.542 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.557341972 | None | None | N |
| F/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.314 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| F/E | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -3.078 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| F/G | 0.9975 | likely_pathogenic | 0.998 | pathogenic | -2.71 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| F/H | 0.9969 | likely_pathogenic | 0.9978 | pathogenic | -1.759 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| F/I | 0.8744 | likely_pathogenic | 0.8917 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.766 | deleterious | N | 0.47523358 | None | None | N |
| F/K | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -2.228 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| F/L | 0.9863 | likely_pathogenic | 0.99 | pathogenic | -0.792 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | N | 0.501517816 | None | None | N |
| F/M | 0.9574 | likely_pathogenic | 0.9592 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| F/N | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -2.955 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| F/P | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| F/Q | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -2.727 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| F/R | 0.9983 | likely_pathogenic | 0.9989 | pathogenic | -2.1 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| F/S | 0.9984 | likely_pathogenic | 0.9988 | pathogenic | -3.383 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.557341972 | None | None | N |
| F/T | 0.9983 | likely_pathogenic | 0.9987 | pathogenic | -3.02 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| F/V | 0.9196 | likely_pathogenic | 0.9326 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.48509172 | None | None | N |
| F/W | 0.951 | likely_pathogenic | 0.9596 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| F/Y | 0.7601 | likely_pathogenic | 0.7841 | pathogenic | -0.62 | Destabilizing | 0.999 | D | 0.598 | neutral | N | 0.501268007 | 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.