Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28204 | 84835;84836;84837 | chr2:178561522;178561521;178561520 | chr2:179426249;179426248;179426247 |
| N2AB | 26563 | 79912;79913;79914 | chr2:178561522;178561521;178561520 | chr2:179426249;179426248;179426247 |
| N2A | 25636 | 77131;77132;77133 | chr2:178561522;178561521;178561520 | chr2:179426249;179426248;179426247 |
| N2B | 19139 | 57640;57641;57642 | chr2:178561522;178561521;178561520 | chr2:179426249;179426248;179426247 |
| Novex-1 | 19264 | 58015;58016;58017 | chr2:178561522;178561521;178561520 | chr2:179426249;179426248;179426247 |
| Novex-2 | 19331 | 58216;58217;58218 | chr2:178561522;178561521;178561520 | chr2:179426249;179426248;179426247 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs796775326  |
-0.541 | 0.912 | N | 0.515 | 0.305 | 0.273503213844 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.59E-05 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/P | rs796775326 |
-0.541 | 0.912 | N | 0.515 | 0.305 | 0.273503213844 | gnomAD-4.0.0 | 3.18459E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77809E-05 | None | 0 | 0 | 0 | 1.4332E-05 | 0 |
| A/V | rs1703657816 |
None | None | N | 0.163 | 0.129 | 0.185906805712 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14079E-04 | 0 |
| A/V | rs1703657816 |
None | None | N | 0.163 | 0.129 | 0.185906805712 | gnomAD-4.0.0 | 3.84532E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.02102E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4151 | ambiguous | 0.4407 | ambiguous | -0.723 | Destabilizing | 0.818 | D | 0.527 | neutral | None | None | None | None | I |
| A/D | 0.7719 | likely_pathogenic | 0.7791 | pathogenic | -1.45 | Destabilizing | 0.818 | D | 0.551 | neutral | None | None | None | None | I |
| A/E | 0.5708 | likely_pathogenic | 0.582 | pathogenic | -1.418 | Destabilizing | 0.492 | N | 0.467 | neutral | N | 0.467872838 | None | None | I |
| A/F | 0.5063 | ambiguous | 0.5154 | ambiguous | -0.926 | Destabilizing | 0.69 | D | 0.551 | neutral | None | None | None | None | I |
| A/G | 0.2366 | likely_benign | 0.2428 | benign | -1.268 | Destabilizing | 0.492 | N | 0.466 | neutral | N | 0.474166715 | None | None | I |
| A/H | 0.7772 | likely_pathogenic | 0.7793 | pathogenic | -1.517 | Destabilizing | 0.981 | D | 0.548 | neutral | None | None | None | None | I |
| A/I | 0.1674 | likely_benign | 0.1821 | benign | -0.21 | Destabilizing | 0.043 | N | 0.388 | neutral | None | None | None | None | I |
| A/K | 0.7523 | likely_pathogenic | 0.7525 | pathogenic | -1.326 | Destabilizing | 0.563 | D | 0.474 | neutral | None | None | None | None | I |
| A/L | 0.219 | likely_benign | 0.224 | benign | -0.21 | Destabilizing | 0.054 | N | 0.304 | neutral | None | None | None | None | I |
| A/M | 0.2378 | likely_benign | 0.2453 | benign | -0.114 | Destabilizing | 0.054 | N | 0.302 | neutral | None | None | None | None | I |
| A/N | 0.5615 | ambiguous | 0.5832 | pathogenic | -1.111 | Destabilizing | 0.932 | D | 0.559 | neutral | None | None | None | None | I |
| A/P | 0.7576 | likely_pathogenic | 0.772 | pathogenic | -0.415 | Destabilizing | 0.912 | D | 0.515 | neutral | N | 0.470154244 | None | None | I |
| A/Q | 0.5685 | likely_pathogenic | 0.574 | pathogenic | -1.176 | Destabilizing | 0.818 | D | 0.515 | neutral | None | None | None | None | I |
| A/R | 0.7267 | likely_pathogenic | 0.7229 | pathogenic | -1.043 | Destabilizing | 0.818 | D | 0.518 | neutral | None | None | None | None | I |
| A/S | 0.1671 | likely_benign | 0.1717 | benign | -1.449 | Destabilizing | 0.324 | N | 0.485 | neutral | N | 0.473152757 | None | None | I |
| A/T | 0.1232 | likely_benign | 0.1316 | benign | -1.316 | Destabilizing | 0.09 | N | 0.463 | neutral | N | 0.496796808 | None | None | I |
| A/V | 0.0787 | likely_benign | 0.0896 | benign | -0.415 | Destabilizing | None | N | 0.163 | neutral | N | 0.387301041 | None | None | I |
| A/W | 0.8826 | likely_pathogenic | 0.8868 | pathogenic | -1.412 | Destabilizing | 0.981 | D | 0.604 | neutral | None | None | None | None | I |
| A/Y | 0.6826 | likely_pathogenic | 0.6795 | pathogenic | -0.952 | Destabilizing | 0.818 | D | 0.558 | neutral | None | None | None | None | I |
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.