Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25936 | 78031;78032;78033 | chr2:178568326;178568325;178568324 | chr2:179433053;179433052;179433051 |
| N2AB | 24295 | 73108;73109;73110 | chr2:178568326;178568325;178568324 | chr2:179433053;179433052;179433051 |
| N2A | 23368 | 70327;70328;70329 | chr2:178568326;178568325;178568324 | chr2:179433053;179433052;179433051 |
| N2B | 16871 | 50836;50837;50838 | chr2:178568326;178568325;178568324 | chr2:179433053;179433052;179433051 |
| Novex-1 | 16996 | 51211;51212;51213 | chr2:178568326;178568325;178568324 | chr2:179433053;179433052;179433051 |
| Novex-2 | 17063 | 51412;51413;51414 | chr2:178568326;178568325;178568324 | chr2:179433053;179433052;179433051 |
| 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/R | rs533763128  |
0.214 | 1.0 | N | 0.596 | 0.409 | 0.636471652698 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93498E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/R | rs533763128 |
0.214 | 1.0 | N | 0.596 | 0.409 | 0.636471652698 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| T/R | rs533763128 |
0.214 | 1.0 | N | 0.596 | 0.409 | 0.636471652698 | gnomAD-4.0.0 | 6.56996E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93949E-04 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1051 | likely_benign | 0.1209 | benign | -0.288 | Destabilizing | 0.996 | D | 0.521 | neutral | N | 0.495623372 | None | None | N |
| T/C | 0.7606 | likely_pathogenic | 0.7846 | pathogenic | -0.364 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| T/D | 0.7974 | likely_pathogenic | 0.8365 | pathogenic | 0.209 | Stabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | N |
| T/E | 0.7197 | likely_pathogenic | 0.7785 | pathogenic | 0.134 | Stabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| T/F | 0.6937 | likely_pathogenic | 0.7782 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | N |
| T/G | 0.4378 | ambiguous | 0.4891 | ambiguous | -0.386 | Destabilizing | 1.0 | D | 0.566 | neutral | None | None | None | None | N |
| T/H | 0.6564 | likely_pathogenic | 0.7303 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| T/I | 0.4403 | ambiguous | 0.5782 | pathogenic | -0.153 | Destabilizing | 0.992 | D | 0.557 | neutral | N | 0.474927183 | None | None | N |
| T/K | 0.5703 | likely_pathogenic | 0.6561 | pathogenic | -0.279 | Destabilizing | 1.0 | D | 0.599 | neutral | N | 0.504973574 | None | None | N |
| T/L | 0.1964 | likely_benign | 0.2343 | benign | -0.153 | Destabilizing | 0.994 | D | 0.532 | neutral | None | None | None | None | N |
| T/M | 0.1298 | likely_benign | 0.1519 | benign | -0.199 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| T/N | 0.3124 | likely_benign | 0.3755 | ambiguous | -0.107 | Destabilizing | 1.0 | D | 0.586 | neutral | None | None | None | None | N |
| T/P | 0.2679 | likely_benign | 0.3423 | ambiguous | -0.171 | Destabilizing | 1.0 | D | 0.583 | neutral | N | 0.465012455 | None | None | N |
| T/Q | 0.5212 | ambiguous | 0.5957 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.609 | neutral | None | None | None | None | N |
| T/R | 0.5193 | ambiguous | 0.6044 | pathogenic | 0.015 | Stabilizing | 1.0 | D | 0.596 | neutral | N | 0.514998566 | None | None | N |
| T/S | 0.2116 | likely_benign | 0.2448 | benign | -0.307 | Destabilizing | 0.998 | D | 0.515 | neutral | N | 0.474632024 | None | None | N |
| T/V | 0.2458 | likely_benign | 0.3133 | benign | -0.171 | Destabilizing | 0.813 | D | 0.469 | neutral | None | None | None | None | N |
| T/W | 0.9278 | likely_pathogenic | 0.9501 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| T/Y | 0.7335 | likely_pathogenic | 0.8029 | pathogenic | -0.624 | Destabilizing | 1.0 | D | 0.638 | 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.