Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19031 | 57316;57317;57318 | chr2:178598526;178598525;178598524 | chr2:179463253;179463252;179463251 |
| N2AB | 17390 | 52393;52394;52395 | chr2:178598526;178598525;178598524 | chr2:179463253;179463252;179463251 |
| N2A | 16463 | 49612;49613;49614 | chr2:178598526;178598525;178598524 | chr2:179463253;179463252;179463251 |
| N2B | 9966 | 30121;30122;30123 | chr2:178598526;178598525;178598524 | chr2:179463253;179463252;179463251 |
| Novex-1 | 10091 | 30496;30497;30498 | chr2:178598526;178598525;178598524 | chr2:179463253;179463252;179463251 |
| Novex-2 | 10158 | 30697;30698;30699 | chr2:178598526;178598525;178598524 | chr2:179463253;179463252;179463251 |
| 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/E | rs1064797275  |
None | 0.999 | N | 0.686 | 0.335 | 0.445711490874 | gnomAD-4.0.0 | 2.75129E-06 | None | None | None | None | N | None | 1.2147E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1347090797 |
None | 0.999 | N | 0.707 | 0.343 | 0.545957683197 | gnomAD-2.1.1 | 4.12E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.99E-06 | 0 |
| G/R | rs1347090797 |
None | 0.999 | N | 0.707 | 0.343 | 0.545957683197 | gnomAD-4.0.0 | 1.60758E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8712E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.25 | likely_benign | 0.2688 | benign | -0.287 | Destabilizing | 0.998 | D | 0.492 | neutral | N | 0.510152894 | None | None | N |
| G/C | 0.3561 | ambiguous | 0.3807 | ambiguous | -0.918 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/D | 0.1305 | likely_benign | 0.1435 | benign | -0.852 | Destabilizing | 0.998 | D | 0.583 | neutral | None | None | None | None | N |
| G/E | 0.1963 | likely_benign | 0.2098 | benign | -1.012 | Destabilizing | 0.999 | D | 0.686 | prob.neutral | N | 0.469282097 | None | None | N |
| G/F | 0.7047 | likely_pathogenic | 0.7412 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/H | 0.4895 | ambiguous | 0.516 | ambiguous | -0.426 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| G/I | 0.4822 | ambiguous | 0.502 | ambiguous | -0.492 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/K | 0.5268 | ambiguous | 0.5406 | ambiguous | -0.903 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| G/L | 0.581 | likely_pathogenic | 0.6096 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| G/M | 0.5606 | ambiguous | 0.5938 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/N | 0.1917 | likely_benign | 0.2129 | benign | -0.523 | Destabilizing | 0.813 | D | 0.417 | neutral | None | None | None | None | N |
| G/P | 0.9138 | likely_pathogenic | 0.9304 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| G/Q | 0.3846 | ambiguous | 0.4042 | ambiguous | -0.82 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| G/R | 0.4894 | ambiguous | 0.5025 | ambiguous | -0.408 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | N | 0.481398871 | None | None | N |
| G/S | 0.1384 | likely_benign | 0.1438 | benign | -0.618 | Destabilizing | 0.997 | D | 0.515 | neutral | None | None | None | None | N |
| G/T | 0.2399 | likely_benign | 0.2552 | benign | -0.721 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/V | 0.3609 | ambiguous | 0.3772 | ambiguous | -0.396 | Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.476412122 | None | None | N |
| G/W | 0.5365 | ambiguous | 0.551 | ambiguous | -1.17 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/Y | 0.5344 | ambiguous | 0.5727 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | 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.