Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21082 | 63469;63470;63471 | chr2:178588163;178588162;178588161 | chr2:179452890;179452889;179452888 |
| N2AB | 19441 | 58546;58547;58548 | chr2:178588163;178588162;178588161 | chr2:179452890;179452889;179452888 |
| N2A | 18514 | 55765;55766;55767 | chr2:178588163;178588162;178588161 | chr2:179452890;179452889;179452888 |
| N2B | 12017 | 36274;36275;36276 | chr2:178588163;178588162;178588161 | chr2:179452890;179452889;179452888 |
| Novex-1 | 12142 | 36649;36650;36651 | chr2:178588163;178588162;178588161 | chr2:179452890;179452889;179452888 |
| Novex-2 | 12209 | 36850;36851;36852 | chr2:178588163;178588162;178588161 | chr2:179452890;179452889;179452888 |
| 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/I | rs2049445898  |
None | 0.998 | N | 0.637 | 0.448 | 0.505518066752 | gnomAD-4.0.0 | 2.75171E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61684E-06 | 0 | 0 |
| T/N | rs2049445898 |
None | 1.0 | N | 0.629 | 0.44 | 0.458374381611 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | rs2049445898 |
None | 1.0 | N | 0.629 | 0.44 | 0.458374381611 | gnomAD-4.0.0 | 3.11402E-06 | None | None | None | None | N | None | 5.34917E-05 | 1.67308E-05 | None | 0 | 0 | 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 | 0.2787 | likely_benign | 0.264 | benign | -1.091 | Destabilizing | 0.996 | D | 0.494 | neutral | N | 0.474637695 | None | None | N |
| T/C | 0.7165 | likely_pathogenic | 0.6968 | pathogenic | -1.153 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| T/D | 0.7572 | likely_pathogenic | 0.7797 | pathogenic | -1.584 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| T/E | 0.774 | likely_pathogenic | 0.7855 | pathogenic | -1.488 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| T/F | 0.674 | likely_pathogenic | 0.674 | pathogenic | -1.004 | Destabilizing | 0.999 | D | 0.751 | deleterious | None | None | None | None | N |
| T/G | 0.6118 | likely_pathogenic | 0.5703 | pathogenic | -1.396 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| T/H | 0.5175 | ambiguous | 0.5052 | ambiguous | -1.556 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| T/I | 0.6042 | likely_pathogenic | 0.5996 | pathogenic | -0.336 | Destabilizing | 0.998 | D | 0.637 | neutral | N | 0.473739096 | None | None | N |
| T/K | 0.6167 | likely_pathogenic | 0.635 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| T/L | 0.4259 | ambiguous | 0.4061 | ambiguous | -0.336 | Destabilizing | 0.994 | D | 0.493 | neutral | None | None | None | None | N |
| T/M | 0.2656 | likely_benign | 0.2423 | benign | -0.263 | Destabilizing | 0.985 | D | 0.41 | neutral | None | None | None | None | N |
| T/N | 0.3579 | ambiguous | 0.3759 | ambiguous | -1.244 | Destabilizing | 1.0 | D | 0.629 | neutral | N | 0.474891185 | None | None | N |
| T/P | 0.9081 | likely_pathogenic | 0.9242 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.517544929 | None | None | N |
| T/Q | 0.5444 | ambiguous | 0.5442 | ambiguous | -1.348 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| T/R | 0.5317 | ambiguous | 0.5739 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| T/S | 0.1653 | likely_benign | 0.1552 | benign | -1.424 | Destabilizing | 0.998 | D | 0.479 | neutral | N | 0.466071256 | None | None | N |
| T/V | 0.4551 | ambiguous | 0.4501 | ambiguous | -0.557 | Destabilizing | 0.994 | D | 0.474 | neutral | None | None | None | None | N |
| T/W | 0.9072 | likely_pathogenic | 0.8997 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| T/Y | 0.6933 | likely_pathogenic | 0.6861 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.775 | deleterious | 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.