Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19196 | 57811;57812;57813 | chr2:178595768;178595767;178595766 | chr2:179460495;179460494;179460493 |
| N2AB | 17555 | 52888;52889;52890 | chr2:178595768;178595767;178595766 | chr2:179460495;179460494;179460493 |
| N2A | 16628 | 50107;50108;50109 | chr2:178595768;178595767;178595766 | chr2:179460495;179460494;179460493 |
| N2B | 10131 | 30616;30617;30618 | chr2:178595768;178595767;178595766 | chr2:179460495;179460494;179460493 |
| Novex-1 | 10256 | 30991;30992;30993 | chr2:178595768;178595767;178595766 | chr2:179460495;179460494;179460493 |
| Novex-2 | 10323 | 31192;31193;31194 | chr2:178595768;178595767;178595766 | chr2:179460495;179460494;179460493 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/V | rs397517630  |
-1.204 | 0.999 | N | 0.508 | 0.211 | None | gnomAD-2.1.1 | 1.69654E-04 | None | None | None | None | N | None | 8.5E-05 | 3.77731E-04 | None | 0 | 0 | None | 6.93E-05 | None | 0 | 2.179E-04 | 2.886E-04 |
| L/V | rs397517630 |
-1.204 | 0.999 | N | 0.508 | 0.211 | None | gnomAD-3.1.2 | 7.9E-05 | None | None | None | None | N | None | 2.42E-05 | 1.96799E-04 | 0 | 0 | 0 | None | 0 | 6.32911E-03 | 7.35E-05 | 2.07125E-04 | 0 |
| L/V | rs397517630 |
-1.204 | 0.999 | N | 0.508 | 0.211 | None | gnomAD-4.0.0 | 1.39276E-04 | None | None | None | None | N | None | 4.00363E-05 | 3.20189E-04 | None | 0 | 0 | None | 0 | 7.93913E-03 | 1.13804E-04 | 1.11542E-04 | 1.6056E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.4907 | ambiguous | 0.5821 | pathogenic | -1.652 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | N |
| L/C | 0.587 | likely_pathogenic | 0.6585 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| L/D | 0.9008 | likely_pathogenic | 0.9452 | pathogenic | -0.823 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| L/E | 0.6489 | likely_pathogenic | 0.7513 | pathogenic | -0.823 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| L/F | 0.2423 | likely_benign | 0.3011 | benign | -1.244 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| L/G | 0.8119 | likely_pathogenic | 0.8704 | pathogenic | -1.973 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| L/H | 0.4933 | ambiguous | 0.6107 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| L/I | 0.1024 | likely_benign | 0.1087 | benign | -0.846 | Destabilizing | 0.999 | D | 0.483 | neutral | N | 0.409156393 | None | None | N |
| L/K | 0.4973 | ambiguous | 0.5838 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| L/M | 0.1455 | likely_benign | 0.1582 | benign | -0.644 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| L/N | 0.698 | likely_pathogenic | 0.7698 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| L/P | 0.6041 | likely_pathogenic | 0.7029 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.82 | deleterious | N | 0.514267848 | None | None | N |
| L/Q | 0.3632 | ambiguous | 0.4478 | ambiguous | -0.923 | Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.497951601 | None | None | N |
| L/R | 0.4247 | ambiguous | 0.527 | ambiguous | -0.409 | Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.487985323 | None | None | N |
| L/S | 0.64 | likely_pathogenic | 0.7355 | pathogenic | -1.428 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| L/T | 0.3848 | ambiguous | 0.473 | ambiguous | -1.307 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| L/V | 0.1033 | likely_benign | 0.1162 | benign | -1.083 | Destabilizing | 0.999 | D | 0.508 | neutral | N | 0.389338482 | None | None | N |
| L/W | 0.5401 | ambiguous | 0.6596 | pathogenic | -1.275 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| L/Y | 0.5624 | ambiguous | 0.6628 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.792 | 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.