Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 57 | 394;395;396 | chr2:178802264;178802263;178802262 | chr2:179666991;179666990;179666989 |
| N2AB | 57 | 394;395;396 | chr2:178802264;178802263;178802262 | chr2:179666991;179666990;179666989 |
| N2A | 57 | 394;395;396 | chr2:178802264;178802263;178802262 | chr2:179666991;179666990;179666989 |
| N2B | 57 | 394;395;396 | chr2:178802264;178802263;178802262 | chr2:179666991;179666990;179666989 |
| Novex-1 | 57 | 394;395;396 | chr2:178802264;178802263;178802262 | chr2:179666991;179666990;179666989 |
| Novex-2 | 57 | 394;395;396 | chr2:178802264;178802263;178802262 | chr2:179666991;179666990;179666989 |
| Novex-3 | 57 | 394;395;396 | chr2:178802264;178802263;178802262 | chr2:179666991;179666990;179666989 |
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/F | rs1274297049  |
None | 1.0 | N | 0.789 | 0.621 | 0.799950227238 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | 0.153(TCAP) | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/F | rs1274297049 |
None | 1.0 | N | 0.789 | 0.621 | 0.799950227238 | gnomAD-4.0.0 | 2.56112E-06 | None | None | None | 0.153(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39167E-06 | 0 | 2.84188E-05 |
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 | 0.103 | likely_benign | 0.1065 | benign | -0.397 | Destabilizing | 0.977 | D | 0.405 | neutral | N | 0.510966168 | None | 0.083(TCAP) | N |
| S/C | 0.3754 | ambiguous | 0.3655 | ambiguous | -0.32 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.593302614 | None | 0.102(TCAP) | N |
| S/D | 0.4831 | ambiguous | 0.516 | ambiguous | 0.295 | Stabilizing | 0.999 | D | 0.571 | neutral | None | None | None | -0.093(TCAP) | N |
| S/E | 0.555 | ambiguous | 0.5823 | pathogenic | 0.245 | Stabilizing | 1.0 | D | 0.558 | neutral | None | None | None | -0.145(TCAP) | N |
| S/F | 0.2153 | likely_benign | 0.2199 | benign | -0.808 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.510764803 | None | 0.153(TCAP) | N |
| S/G | 0.1515 | likely_benign | 0.158 | benign | -0.572 | Destabilizing | 1.0 | D | 0.496 | neutral | None | None | None | 0.074(TCAP) | N |
| S/H | 0.3738 | ambiguous | 0.3932 | ambiguous | -0.973 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | 0.731(TCAP) | N |
| S/I | 0.1806 | likely_benign | 0.1871 | benign | -0.058 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | 0.079(TCAP) | N |
| S/K | 0.7652 | likely_pathogenic | 0.7914 | pathogenic | -0.449 | Destabilizing | 1.0 | D | 0.56 | neutral | None | None | None | -0.038(TCAP) | N |
| S/L | 0.1486 | likely_benign | 0.1501 | benign | -0.058 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | 0.079(TCAP) | N |
| S/M | 0.2814 | likely_benign | 0.2899 | benign | -0.013 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | 0.525(TCAP) | N |
| S/N | 0.1888 | likely_benign | 0.2054 | benign | -0.276 | Destabilizing | 0.995 | D | 0.537 | neutral | None | None | None | -0.354(TCAP) | N |
| S/P | 0.9318 | likely_pathogenic | 0.9337 | pathogenic | -0.139 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.574553213 | None | 0.086(TCAP) | N |
| S/Q | 0.5209 | ambiguous | 0.5453 | ambiguous | -0.422 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | -0.24(TCAP) | N |
| S/R | 0.5904 | likely_pathogenic | 0.6257 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | 0.091(TCAP) | N |
| S/T | 0.0833 | likely_benign | 0.0857 | benign | -0.342 | Destabilizing | 0.994 | D | 0.476 | neutral | N | 0.46377522 | None | -0.276(TCAP) | N |
| S/V | 0.2086 | likely_benign | 0.2193 | benign | -0.139 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | 0.086(TCAP) | N |
| S/W | 0.4555 | ambiguous | 0.4578 | ambiguous | -0.835 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | 0.219(TCAP) | N |
| S/Y | 0.249 | likely_benign | 0.2464 | benign | -0.54 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.508418966 | None | 0.369(TCAP) | 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.