Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16517 | 49774;49775;49776 | chr2:178613260;178613259;178613258 | chr2:179477987;179477986;179477985 |
| N2AB | 14876 | 44851;44852;44853 | chr2:178613260;178613259;178613258 | chr2:179477987;179477986;179477985 |
| N2A | 13949 | 42070;42071;42072 | chr2:178613260;178613259;178613258 | chr2:179477987;179477986;179477985 |
| N2B | 7452 | 22579;22580;22581 | chr2:178613260;178613259;178613258 | chr2:179477987;179477986;179477985 |
| Novex-1 | 7577 | 22954;22955;22956 | chr2:178613260;178613259;178613258 | chr2:179477987;179477986;179477985 |
| Novex-2 | 7644 | 23155;23156;23157 | chr2:178613260;178613259;178613258 | chr2:179477987;179477986;179477985 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs1052305609  |
-0.21 | 0.98 | N | 0.417 | 0.279 | 0.34854441366 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 2.94E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/D | rs1052305609 |
-0.21 | 0.98 | N | 0.417 | 0.279 | 0.34854441366 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/D | rs1052305609 |
-0.21 | 0.98 | N | 0.417 | 0.279 | 0.34854441366 | gnomAD-4.0.0 | 2.57504E-06 | None | None | None | None | N | None | 0 | 1.70596E-05 | None | 0 | 0 | None | 0 | 0 | 2.40134E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.3282 | likely_benign | 0.1896 | benign | -0.541 | Destabilizing | 0.931 | D | 0.363 | neutral | None | None | None | None | N |
| N/C | 0.549 | ambiguous | 0.2927 | benign | 0.193 | Stabilizing | 1.0 | D | 0.548 | neutral | None | None | None | None | N |
| N/D | 0.4774 | ambiguous | 0.2501 | benign | -0.108 | Destabilizing | 0.98 | D | 0.417 | neutral | N | 0.462963281 | None | None | N |
| N/E | 0.8123 | likely_pathogenic | 0.5084 | ambiguous | -0.079 | Destabilizing | 0.985 | D | 0.385 | neutral | None | None | None | None | N |
| N/F | 0.8132 | likely_pathogenic | 0.6489 | pathogenic | -0.499 | Destabilizing | 0.999 | D | 0.567 | neutral | None | None | None | None | N |
| N/G | 0.3638 | ambiguous | 0.2136 | benign | -0.815 | Destabilizing | 0.985 | D | 0.373 | neutral | None | None | None | None | N |
| N/H | 0.2789 | likely_benign | 0.1628 | benign | -0.679 | Destabilizing | 0.998 | D | 0.44 | neutral | N | 0.475565228 | None | None | N |
| N/I | 0.5249 | ambiguous | 0.3598 | ambiguous | 0.122 | Stabilizing | 0.989 | D | 0.541 | neutral | N | 0.474580624 | None | None | N |
| N/K | 0.8009 | likely_pathogenic | 0.6027 | pathogenic | -0.155 | Destabilizing | 0.961 | D | 0.385 | neutral | N | 0.453727894 | None | None | N |
| N/L | 0.4422 | ambiguous | 0.3026 | benign | 0.122 | Stabilizing | 0.97 | D | 0.479 | neutral | None | None | None | None | N |
| N/M | 0.5958 | likely_pathogenic | 0.3955 | ambiguous | 0.464 | Stabilizing | 1.0 | D | 0.499 | neutral | None | None | None | None | N |
| N/P | 0.466 | ambiguous | 0.3177 | benign | -0.07 | Destabilizing | 0.999 | D | 0.479 | neutral | None | None | None | None | N |
| N/Q | 0.6479 | likely_pathogenic | 0.4021 | ambiguous | -0.653 | Destabilizing | 0.999 | D | 0.431 | neutral | None | None | None | None | N |
| N/R | 0.7986 | likely_pathogenic | 0.6146 | pathogenic | -0.137 | Destabilizing | 0.996 | D | 0.417 | neutral | None | None | None | None | N |
| N/S | 0.1073 | likely_benign | 0.0856 | benign | -0.547 | Destabilizing | 0.835 | D | 0.478 | neutral | N | 0.436642001 | None | None | N |
| N/T | 0.1956 | likely_benign | 0.1401 | benign | -0.348 | Destabilizing | 0.044 | N | 0.147 | neutral | N | 0.369214272 | None | None | N |
| N/V | 0.4376 | ambiguous | 0.2837 | benign | -0.07 | Destabilizing | 0.97 | D | 0.489 | neutral | None | None | None | None | N |
| N/W | 0.9262 | likely_pathogenic | 0.7978 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.606 | neutral | None | None | None | None | N |
| N/Y | 0.4151 | ambiguous | 0.24 | benign | -0.135 | Destabilizing | 0.998 | D | 0.504 | neutral | N | 0.480825623 | 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.