Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29927 | 90004;90005;90006 | chr2:178553121;178553120;178553119 | chr2:179417848;179417847;179417846 |
| N2AB | 28286 | 85081;85082;85083 | chr2:178553121;178553120;178553119 | chr2:179417848;179417847;179417846 |
| N2A | 27359 | 82300;82301;82302 | chr2:178553121;178553120;178553119 | chr2:179417848;179417847;179417846 |
| N2B | 20862 | 62809;62810;62811 | chr2:178553121;178553120;178553119 | chr2:179417848;179417847;179417846 |
| Novex-1 | 20987 | 63184;63185;63186 | chr2:178553121;178553120;178553119 | chr2:179417848;179417847;179417846 |
| Novex-2 | 21054 | 63385;63386;63387 | chr2:178553121;178553120;178553119 | chr2:179417848;179417847;179417846 |
| 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/N | rs1462504715  |
-0.535 | None | N | 0.183 | 0.091 | 0.0611884634855 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs1462504715 |
-0.535 | None | N | 0.183 | 0.091 | 0.0611884634855 | gnomAD-4.0.0 | 3.42566E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52232E-05 | None | 0 | 0 | 2.702E-06 | 1.16055E-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 | 0.0911 | likely_benign | 0.0931 | benign | -0.95 | Destabilizing | None | N | 0.177 | neutral | None | None | None | None | N |
| S/C | 0.1172 | likely_benign | 0.1096 | benign | -0.68 | Destabilizing | 0.78 | D | 0.566 | neutral | N | 0.491901436 | None | None | N |
| S/D | 0.5091 | ambiguous | 0.4138 | ambiguous | -0.016 | Destabilizing | 0.081 | N | 0.523 | neutral | None | None | None | None | N |
| S/E | 0.6837 | likely_pathogenic | 0.5969 | pathogenic | -0.042 | Destabilizing | 0.081 | N | 0.533 | neutral | None | None | None | None | N |
| S/F | 0.1952 | likely_benign | 0.2027 | benign | -1.283 | Destabilizing | 0.555 | D | 0.641 | neutral | None | None | None | None | N |
| S/G | 0.1203 | likely_benign | 0.1154 | benign | -1.14 | Destabilizing | 0.027 | N | 0.504 | neutral | N | 0.497635427 | None | None | N |
| S/H | 0.337 | likely_benign | 0.2763 | benign | -1.596 | Destabilizing | 0.38 | N | 0.589 | neutral | None | None | None | None | N |
| S/I | 0.1212 | likely_benign | 0.1177 | benign | -0.549 | Destabilizing | 0.188 | N | 0.621 | neutral | N | 0.466855982 | None | None | N |
| S/K | 0.7568 | likely_pathogenic | 0.6628 | pathogenic | -0.583 | Destabilizing | 0.081 | N | 0.539 | neutral | None | None | None | None | N |
| S/L | 0.0973 | likely_benign | 0.1038 | benign | -0.549 | Destabilizing | 0.081 | N | 0.589 | neutral | None | None | None | None | N |
| S/M | 0.1536 | likely_benign | 0.1479 | benign | -0.22 | Destabilizing | 0.555 | D | 0.575 | neutral | None | None | None | None | N |
| S/N | 0.0957 | likely_benign | 0.0838 | benign | -0.447 | Destabilizing | None | N | 0.183 | neutral | N | 0.406826243 | None | None | N |
| S/P | 0.4812 | ambiguous | 0.5469 | ambiguous | -0.654 | Destabilizing | 0.555 | D | 0.591 | neutral | None | None | None | None | N |
| S/Q | 0.5426 | ambiguous | 0.4636 | ambiguous | -0.699 | Destabilizing | 0.38 | N | 0.584 | neutral | None | None | None | None | N |
| S/R | 0.6817 | likely_pathogenic | 0.5945 | pathogenic | -0.462 | Destabilizing | 0.117 | N | 0.587 | neutral | N | 0.476936902 | None | None | N |
| S/T | 0.0711 | likely_benign | 0.0688 | benign | -0.592 | Destabilizing | None | N | 0.165 | neutral | N | 0.425892007 | None | None | N |
| S/V | 0.1516 | likely_benign | 0.1432 | benign | -0.654 | Destabilizing | 0.081 | N | 0.609 | neutral | None | None | None | None | N |
| S/W | 0.3601 | ambiguous | 0.353 | ambiguous | -1.155 | Destabilizing | 0.935 | D | 0.655 | neutral | None | None | None | None | N |
| S/Y | 0.192 | likely_benign | 0.1758 | benign | -0.917 | Destabilizing | 0.555 | D | 0.636 | 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.