Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20923 | 62992;62993;62994 | chr2:178588958;178588957;178588956 | chr2:179453685;179453684;179453683 |
| N2AB | 19282 | 58069;58070;58071 | chr2:178588958;178588957;178588956 | chr2:179453685;179453684;179453683 |
| N2A | 18355 | 55288;55289;55290 | chr2:178588958;178588957;178588956 | chr2:179453685;179453684;179453683 |
| N2B | 11858 | 35797;35798;35799 | chr2:178588958;178588957;178588956 | chr2:179453685;179453684;179453683 |
| Novex-1 | 11983 | 36172;36173;36174 | chr2:178588958;178588957;178588956 | chr2:179453685;179453684;179453683 |
| Novex-2 | 12050 | 36373;36374;36375 | chr2:178588958;178588957;178588956 | chr2:179453685;179453684;179453683 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | None | N | 0.162 | 0.077 | 0.0611884634855 | gnomAD-4.0.0 | 1.59402E-06 | None | None | None | None | N | None | 0 | 2.2919E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs781000091  |
0.094 | 0.062 | N | 0.608 | 0.075 | 0.260249123532 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.95E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0556 | likely_benign | 0.0547 | benign | -0.982 | Destabilizing | None | N | 0.162 | neutral | N | 0.390301274 | None | None | N |
| T/C | 0.17 | likely_benign | 0.1918 | benign | -0.596 | Destabilizing | 0.824 | D | 0.617 | neutral | None | None | None | None | N |
| T/D | 0.4142 | ambiguous | 0.4542 | ambiguous | 0.395 | Stabilizing | 0.149 | N | 0.611 | neutral | None | None | None | None | N |
| T/E | 0.336 | likely_benign | 0.3832 | ambiguous | 0.471 | Stabilizing | 0.149 | N | 0.606 | neutral | None | None | None | None | N |
| T/F | 0.1573 | likely_benign | 0.1985 | benign | -1.086 | Destabilizing | 0.38 | N | 0.621 | neutral | None | None | None | None | N |
| T/G | 0.1523 | likely_benign | 0.168 | benign | -1.278 | Destabilizing | None | N | 0.441 | neutral | None | None | None | None | N |
| T/H | 0.228 | likely_benign | 0.2665 | benign | -1.385 | Destabilizing | 0.935 | D | 0.625 | neutral | None | None | None | None | N |
| T/I | 0.0938 | likely_benign | 0.1146 | benign | -0.262 | Destabilizing | 0.062 | N | 0.608 | neutral | N | 0.451120446 | None | None | N |
| T/K | 0.2723 | likely_benign | 0.3077 | benign | -0.234 | Destabilizing | 0.149 | N | 0.587 | neutral | None | None | None | None | N |
| T/L | 0.0728 | likely_benign | 0.0884 | benign | -0.262 | Destabilizing | 0.012 | N | 0.524 | neutral | None | None | None | None | N |
| T/M | 0.0661 | likely_benign | 0.0809 | benign | -0.208 | Destabilizing | 0.016 | N | 0.467 | neutral | None | None | None | None | N |
| T/N | 0.1232 | likely_benign | 0.1354 | benign | -0.454 | Destabilizing | 0.211 | N | 0.583 | neutral | N | 0.472698684 | None | None | N |
| T/P | 0.422 | ambiguous | 0.4627 | ambiguous | -0.47 | Destabilizing | 0.317 | N | 0.633 | neutral | N | 0.517153437 | None | None | N |
| T/Q | 0.2263 | likely_benign | 0.2696 | benign | -0.405 | Destabilizing | 0.555 | D | 0.615 | neutral | None | None | None | None | N |
| T/R | 0.2555 | likely_benign | 0.3002 | benign | -0.254 | Destabilizing | 0.38 | N | 0.635 | neutral | None | None | None | None | N |
| T/S | 0.093 | likely_benign | 0.0979 | benign | -0.893 | Destabilizing | 0.027 | N | 0.475 | neutral | N | 0.492025706 | None | None | N |
| T/V | 0.0739 | likely_benign | 0.0859 | benign | -0.47 | Destabilizing | 0.035 | N | 0.459 | neutral | None | None | None | None | N |
| T/W | 0.511 | ambiguous | 0.6107 | pathogenic | -1.017 | Destabilizing | 0.935 | D | 0.637 | neutral | None | None | None | None | N |
| T/Y | 0.1966 | likely_benign | 0.2411 | benign | -0.72 | Destabilizing | 0.555 | D | 0.643 | 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.