Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19683 | 59272;59273;59274 | chr2:178593072;178593071;178593070 | chr2:179457799;179457798;179457797 |
| N2AB | 18042 | 54349;54350;54351 | chr2:178593072;178593071;178593070 | chr2:179457799;179457798;179457797 |
| N2A | 17115 | 51568;51569;51570 | chr2:178593072;178593071;178593070 | chr2:179457799;179457798;179457797 |
| N2B | 10618 | 32077;32078;32079 | chr2:178593072;178593071;178593070 | chr2:179457799;179457798;179457797 |
| Novex-1 | 10743 | 32452;32453;32454 | chr2:178593072;178593071;178593070 | chr2:179457799;179457798;179457797 |
| Novex-2 | 10810 | 32653;32654;32655 | chr2:178593072;178593071;178593070 | chr2:179457799;179457798;179457797 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | rs768307125  |
-0.608 | 1.0 | N | 0.921 | 0.494 | 0.534620942121 | gnomAD-2.1.1 | 6.47E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 3.71506E-04 | 6.25E-05 | 1.66834E-04 |
| P/R | rs768307125 |
-0.608 | 1.0 | N | 0.921 | 0.494 | 0.534620942121 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 2.83286E-04 | 0 | 2.94E-05 | 0 | 0 |
| P/R | rs768307125 |
-0.608 | 1.0 | N | 0.921 | 0.494 | 0.534620942121 | gnomAD-4.0.0 | 7.05856E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 5.18037E-04 | 0 | 4.07227E-05 | 0 | 1.42434E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1235 | likely_benign | 0.1063 | benign | -1.604 | Destabilizing | 1.0 | D | 0.845 | deleterious | N | 0.501410407 | None | None | N |
| P/C | 0.6559 | likely_pathogenic | 0.6294 | pathogenic | -1.164 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| P/D | 0.935 | likely_pathogenic | 0.9197 | pathogenic | -2.119 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/E | 0.7072 | likely_pathogenic | 0.6545 | pathogenic | -2.141 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/F | 0.8313 | likely_pathogenic | 0.804 | pathogenic | -1.438 | Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | None | N |
| P/G | 0.6681 | likely_pathogenic | 0.6592 | pathogenic | -1.888 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/H | 0.591 | likely_pathogenic | 0.5528 | ambiguous | -1.416 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/I | 0.6428 | likely_pathogenic | 0.6034 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| P/K | 0.6505 | likely_pathogenic | 0.6038 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/L | 0.3902 | ambiguous | 0.3423 | ambiguous | -0.917 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.528585293 | None | None | N |
| P/M | 0.6163 | likely_pathogenic | 0.5749 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| P/N | 0.8376 | likely_pathogenic | 0.8242 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| P/Q | 0.4175 | ambiguous | 0.372 | ambiguous | -1.388 | Destabilizing | 1.0 | D | 0.885 | deleterious | N | 0.508706611 | None | None | N |
| P/R | 0.4939 | ambiguous | 0.4332 | ambiguous | -0.69 | Destabilizing | 1.0 | D | 0.921 | deleterious | N | 0.50444065 | None | None | N |
| P/S | 0.3243 | likely_benign | 0.2861 | benign | -1.536 | Destabilizing | 1.0 | D | 0.869 | deleterious | N | 0.487057184 | None | None | N |
| P/T | 0.3942 | ambiguous | 0.3617 | ambiguous | -1.465 | Destabilizing | 1.0 | D | 0.865 | deleterious | N | 0.516557424 | None | None | N |
| P/V | 0.4721 | ambiguous | 0.4305 | ambiguous | -1.115 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/W | 0.9416 | likely_pathogenic | 0.9315 | pathogenic | -1.614 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| P/Y | 0.8336 | likely_pathogenic | 0.81 | pathogenic | -1.326 | Destabilizing | 1.0 | D | 0.936 | 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.