Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30340 | 91243;91244;91245 | chr2:178551882;178551881;178551880 | chr2:179416609;179416608;179416607 |
| N2AB | 28699 | 86320;86321;86322 | chr2:178551882;178551881;178551880 | chr2:179416609;179416608;179416607 |
| N2A | 27772 | 83539;83540;83541 | chr2:178551882;178551881;178551880 | chr2:179416609;179416608;179416607 |
| N2B | 21275 | 64048;64049;64050 | chr2:178551882;178551881;178551880 | chr2:179416609;179416608;179416607 |
| Novex-1 | 21400 | 64423;64424;64425 | chr2:178551882;178551881;178551880 | chr2:179416609;179416608;179416607 |
| Novex-2 | 21467 | 64624;64625;64626 | chr2:178551882;178551881;178551880 | chr2:179416609;179416608;179416607 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | rs758970884  |
-1.902 | 1.0 | N | 0.781 | 0.474 | 0.6507782609 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2025 | likely_benign | 0.2214 | benign | -0.648 | Destabilizing | 1.0 | D | 0.589 | neutral | N | 0.432900045 | None | None | N |
| G/C | 0.3205 | likely_benign | 0.3717 | ambiguous | -2.039 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.431593323 | None | None | N |
| G/D | 0.9042 | likely_pathogenic | 0.9157 | pathogenic | -2.989 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | N | 0.495103297 | None | None | N |
| G/E | 0.8388 | likely_pathogenic | 0.8608 | pathogenic | -2.944 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| G/F | 0.8218 | likely_pathogenic | 0.8577 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| G/H | 0.8227 | likely_pathogenic | 0.8406 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/I | 0.6532 | likely_pathogenic | 0.723 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/K | 0.9348 | likely_pathogenic | 0.9471 | pathogenic | -1.326 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| G/L | 0.8085 | likely_pathogenic | 0.8546 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/M | 0.7415 | likely_pathogenic | 0.7909 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/N | 0.7528 | likely_pathogenic | 0.7889 | pathogenic | -1.684 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/P | 0.9977 | likely_pathogenic | 0.9985 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/Q | 0.7893 | likely_pathogenic | 0.8153 | pathogenic | -1.836 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/R | 0.837 | likely_pathogenic | 0.8588 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.873 | deleterious | N | 0.465396465 | None | None | N |
| G/S | 0.1525 | likely_benign | 0.1541 | benign | -1.798 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.341483033 | None | None | N |
| G/T | 0.3289 | likely_benign | 0.3569 | ambiguous | -1.688 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/V | 0.5175 | ambiguous | 0.5958 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.865 | deleterious | N | 0.476690894 | None | None | N |
| G/W | 0.8045 | likely_pathogenic | 0.8412 | pathogenic | -1.522 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/Y | 0.7704 | likely_pathogenic | 0.816 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.84 | 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.