Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19893 | 59902;59903;59904 | chr2:178592227;178592226;178592225 | chr2:179456954;179456953;179456952 |
| N2AB | 18252 | 54979;54980;54981 | chr2:178592227;178592226;178592225 | chr2:179456954;179456953;179456952 |
| N2A | 17325 | 52198;52199;52200 | chr2:178592227;178592226;178592225 | chr2:179456954;179456953;179456952 |
| N2B | 10828 | 32707;32708;32709 | chr2:178592227;178592226;178592225 | chr2:179456954;179456953;179456952 |
| Novex-1 | 10953 | 33082;33083;33084 | chr2:178592227;178592226;178592225 | chr2:179456954;179456953;179456952 |
| Novex-2 | 11020 | 33283;33284;33285 | chr2:178592227;178592226;178592225 | chr2:179456954;179456953;179456952 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | rs766590578  |
0.279 | 1.0 | N | 0.753 | 0.529 | 0.785336147086 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.1E-06 | 0 |
| S/L | rs766590578 |
0.279 | 1.0 | N | 0.753 | 0.529 | 0.785336147086 | gnomAD-4.0.0 | 3.193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.73082E-06 | 0 | 0 |
| S/P | None | None | 1.0 | D | 0.827 | 0.565 | 0.588862895911 | gnomAD-4.0.0 | 3.19289E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.73069E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.156 | likely_benign | 0.152 | benign | -0.864 | Destabilizing | 0.997 | D | 0.455 | neutral | D | 0.529685591 | None | None | N |
| S/C | 0.1398 | likely_benign | 0.1502 | benign | -0.925 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| S/D | 0.9096 | likely_pathogenic | 0.9031 | pathogenic | -1.669 | Destabilizing | 0.999 | D | 0.573 | neutral | None | None | None | None | N |
| S/E | 0.9274 | likely_pathogenic | 0.9204 | pathogenic | -1.559 | Destabilizing | 0.999 | D | 0.555 | neutral | None | None | None | None | N |
| S/F | 0.4063 | ambiguous | 0.4238 | ambiguous | -0.823 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| S/G | 0.167 | likely_benign | 0.1765 | benign | -1.174 | Destabilizing | 0.999 | D | 0.487 | neutral | None | None | None | None | N |
| S/H | 0.5944 | likely_pathogenic | 0.6262 | pathogenic | -1.512 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| S/I | 0.5566 | ambiguous | 0.579 | pathogenic | -0.114 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| S/K | 0.9653 | likely_pathogenic | 0.9662 | pathogenic | -0.749 | Destabilizing | 0.999 | D | 0.556 | neutral | None | None | None | None | N |
| S/L | 0.3382 | likely_benign | 0.3468 | ambiguous | -0.114 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.516097487 | None | None | N |
| S/M | 0.3925 | ambiguous | 0.429 | ambiguous | -0.056 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| S/N | 0.4562 | ambiguous | 0.4764 | ambiguous | -1.215 | Destabilizing | 0.999 | D | 0.559 | neutral | None | None | None | None | N |
| S/P | 0.9923 | likely_pathogenic | 0.9914 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.527618377 | None | None | N |
| S/Q | 0.8225 | likely_pathogenic | 0.8236 | pathogenic | -1.225 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| S/R | 0.9243 | likely_pathogenic | 0.9231 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| S/T | 0.1421 | likely_benign | 0.1484 | benign | -0.967 | Destabilizing | 0.999 | D | 0.483 | neutral | D | 0.524719702 | None | None | N |
| S/V | 0.5012 | ambiguous | 0.5051 | ambiguous | -0.331 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| S/W | 0.6414 | likely_pathogenic | 0.6579 | pathogenic | -0.975 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| S/Y | 0.3949 | ambiguous | 0.4148 | ambiguous | -0.599 | Destabilizing | 1.0 | D | 0.858 | 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.