Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22198 | 66817;66818;66819 | chr2:178581676;178581675;178581674 | chr2:179446403;179446402;179446401 |
| N2AB | 20557 | 61894;61895;61896 | chr2:178581676;178581675;178581674 | chr2:179446403;179446402;179446401 |
| N2A | 19630 | 59113;59114;59115 | chr2:178581676;178581675;178581674 | chr2:179446403;179446402;179446401 |
| N2B | 13133 | 39622;39623;39624 | chr2:178581676;178581675;178581674 | chr2:179446403;179446402;179446401 |
| Novex-1 | 13258 | 39997;39998;39999 | chr2:178581676;178581675;178581674 | chr2:179446403;179446402;179446401 |
| Novex-2 | 13325 | 40198;40199;40200 | chr2:178581676;178581675;178581674 | chr2:179446403;179446402;179446401 |
| 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/T | rs2047776872  |
None | 0.032 | N | 0.305 | 0.188 | 0.200317383148 | 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 |
| A/T | rs2047776872 |
None | 0.032 | N | 0.305 | 0.188 | 0.200317383148 | gnomAD-4.0.0 | 2.56623E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.79251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4152 | ambiguous | 0.44 | ambiguous | -0.972 | Destabilizing | 0.994 | D | 0.581 | neutral | None | None | None | None | N |
| A/D | 0.2385 | likely_benign | 0.2454 | benign | -1.411 | Destabilizing | 0.942 | D | 0.659 | neutral | N | 0.498412961 | None | None | N |
| A/E | 0.2031 | likely_benign | 0.216 | benign | -1.495 | Destabilizing | 0.956 | D | 0.521 | neutral | None | None | None | None | N |
| A/F | 0.3724 | ambiguous | 0.3855 | ambiguous | -1.27 | Destabilizing | 0.956 | D | 0.679 | prob.neutral | None | None | None | None | N |
| A/G | 0.1272 | likely_benign | 0.1336 | benign | -1.238 | Destabilizing | 0.822 | D | 0.495 | neutral | N | 0.458510565 | None | None | N |
| A/H | 0.5045 | ambiguous | 0.5283 | ambiguous | -1.23 | Destabilizing | 0.998 | D | 0.673 | neutral | None | None | None | None | N |
| A/I | 0.1991 | likely_benign | 0.1961 | benign | -0.683 | Destabilizing | 0.514 | D | 0.502 | neutral | None | None | None | None | N |
| A/K | 0.4652 | ambiguous | 0.4871 | ambiguous | -1.304 | Destabilizing | 0.956 | D | 0.53 | neutral | None | None | None | None | N |
| A/L | 0.1683 | likely_benign | 0.1731 | benign | -0.683 | Destabilizing | 0.754 | D | 0.499 | neutral | None | None | None | None | N |
| A/M | 0.1908 | likely_benign | 0.1947 | benign | -0.467 | Destabilizing | 0.988 | D | 0.577 | neutral | None | None | None | None | N |
| A/N | 0.2274 | likely_benign | 0.2328 | benign | -0.959 | Destabilizing | 0.956 | D | 0.666 | neutral | None | None | None | None | N |
| A/P | 0.2929 | likely_benign | 0.2967 | benign | -0.765 | Destabilizing | 0.971 | D | 0.568 | neutral | N | 0.45752913 | None | None | N |
| A/Q | 0.3336 | likely_benign | 0.3508 | ambiguous | -1.239 | Destabilizing | 0.978 | D | 0.584 | neutral | None | None | None | None | N |
| A/R | 0.4875 | ambiguous | 0.5165 | ambiguous | -0.767 | Destabilizing | 0.956 | D | 0.581 | neutral | None | None | None | None | N |
| A/S | 0.0854 | likely_benign | 0.0876 | benign | -1.251 | Destabilizing | 0.698 | D | 0.517 | neutral | N | 0.47291987 | None | None | N |
| A/T | 0.087 | likely_benign | 0.0909 | benign | -1.258 | Destabilizing | 0.032 | N | 0.305 | neutral | N | 0.489542761 | None | None | N |
| A/V | 0.1104 | likely_benign | 0.1112 | benign | -0.765 | Destabilizing | 0.014 | N | 0.305 | neutral | N | 0.444213117 | None | None | N |
| A/W | 0.7032 | likely_pathogenic | 0.7378 | pathogenic | -1.48 | Destabilizing | 0.998 | D | 0.704 | prob.neutral | None | None | None | None | N |
| A/Y | 0.5011 | ambiguous | 0.5085 | ambiguous | -1.156 | Destabilizing | 0.978 | D | 0.672 | neutral | 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.