Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28552 | 85879;85880;85881 | chr2:178560478;178560477;178560476 | chr2:179425205;179425204;179425203 |
| N2AB | 26911 | 80956;80957;80958 | chr2:178560478;178560477;178560476 | chr2:179425205;179425204;179425203 |
| N2A | 25984 | 78175;78176;78177 | chr2:178560478;178560477;178560476 | chr2:179425205;179425204;179425203 |
| N2B | 19487 | 58684;58685;58686 | chr2:178560478;178560477;178560476 | chr2:179425205;179425204;179425203 |
| Novex-1 | 19612 | 59059;59060;59061 | chr2:178560478;178560477;178560476 | chr2:179425205;179425204;179425203 |
| Novex-2 | 19679 | 59260;59261;59262 | chr2:178560478;178560477;178560476 | chr2:179425205;179425204;179425203 |
| 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/G | rs1404561736  |
-1.206 | None | N | 0.291 | 0.075 | 0.136095386433 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
| S/G | rs1404561736 |
-1.206 | None | N | 0.291 | 0.075 | 0.136095386433 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| S/G | rs1404561736 |
-1.206 | None | N | 0.291 | 0.075 | 0.136095386433 | gnomAD-4.0.0 | 1.85963E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23324E-05 | None | 0 | 0 | 0 | 2.19679E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1069 | likely_benign | 0.1033 | benign | -0.726 | Destabilizing | 0.002 | N | 0.267 | neutral | None | None | None | None | N |
| S/C | 0.1462 | likely_benign | 0.1236 | benign | -0.668 | Destabilizing | 0.946 | D | 0.664 | neutral | N | 0.492666271 | None | None | N |
| S/D | 0.3408 | ambiguous | 0.2742 | benign | -1.027 | Destabilizing | 0.001 | N | 0.349 | neutral | None | None | None | None | N |
| S/E | 0.5483 | ambiguous | 0.4629 | ambiguous | -0.993 | Destabilizing | 0.124 | N | 0.487 | neutral | None | None | None | None | N |
| S/F | 0.2334 | likely_benign | 0.2249 | benign | -0.86 | Destabilizing | 0.667 | D | 0.722 | prob.delet. | None | None | None | None | N |
| S/G | 0.079 | likely_benign | 0.0814 | benign | -1.002 | Destabilizing | None | N | 0.291 | neutral | N | 0.43339869 | None | None | N |
| S/H | 0.415 | ambiguous | 0.3352 | benign | -1.545 | Destabilizing | 0.859 | D | 0.668 | neutral | None | None | None | None | N |
| S/I | 0.3158 | likely_benign | 0.2551 | benign | -0.088 | Destabilizing | 0.427 | N | 0.683 | prob.neutral | N | 0.481309966 | None | None | N |
| S/K | 0.7057 | likely_pathogenic | 0.5964 | pathogenic | -0.811 | Destabilizing | 0.22 | N | 0.482 | neutral | None | None | None | None | N |
| S/L | 0.1125 | likely_benign | 0.0986 | benign | -0.088 | Destabilizing | 0.124 | N | 0.601 | neutral | None | None | None | None | N |
| S/M | 0.2478 | likely_benign | 0.226 | benign | 0.186 | Stabilizing | 0.859 | D | 0.668 | neutral | None | None | None | None | N |
| S/N | 0.1729 | likely_benign | 0.1289 | benign | -0.975 | Destabilizing | 0.096 | N | 0.507 | neutral | N | 0.508899313 | None | None | N |
| S/P | 0.6531 | likely_pathogenic | 0.5994 | pathogenic | -0.266 | Destabilizing | 0.364 | N | 0.611 | neutral | None | None | None | None | N |
| S/Q | 0.5705 | likely_pathogenic | 0.4784 | ambiguous | -1.111 | Destabilizing | 0.497 | N | 0.538 | neutral | None | None | None | None | N |
| S/R | 0.6938 | likely_pathogenic | 0.5725 | pathogenic | -0.759 | Destabilizing | 0.427 | N | 0.633 | neutral | N | 0.480042518 | None | None | N |
| S/T | 0.1049 | likely_benign | 0.0947 | benign | -0.85 | Destabilizing | None | N | 0.263 | neutral | N | 0.462646949 | None | None | N |
| S/V | 0.2971 | likely_benign | 0.248 | benign | -0.266 | Destabilizing | 0.124 | N | 0.601 | neutral | None | None | None | None | N |
| S/W | 0.4462 | ambiguous | 0.4127 | ambiguous | -0.908 | Destabilizing | 0.958 | D | 0.749 | deleterious | None | None | None | None | N |
| S/Y | 0.2343 | likely_benign | 0.2146 | benign | -0.594 | Destabilizing | 0.859 | D | 0.723 | 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.