Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17290 | 52093;52094;52095 | chr2:178609442;178609441;178609440 | chr2:179474169;179474168;179474167 |
| N2AB | 15649 | 47170;47171;47172 | chr2:178609442;178609441;178609440 | chr2:179474169;179474168;179474167 |
| N2A | 14722 | 44389;44390;44391 | chr2:178609442;178609441;178609440 | chr2:179474169;179474168;179474167 |
| N2B | 8225 | 24898;24899;24900 | chr2:178609442;178609441;178609440 | chr2:179474169;179474168;179474167 |
| Novex-1 | 8350 | 25273;25274;25275 | chr2:178609442;178609441;178609440 | chr2:179474169;179474168;179474167 |
| Novex-2 | 8417 | 25474;25475;25476 | chr2:178609442;178609441;178609440 | chr2:179474169;179474168;179474167 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | N | 0.843 | 0.491 | 0.742616433148 | gnomAD-4.0.0 | 1.36956E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7999E-06 | 0 | 0 |
| P/S | rs1481460924  |
None | 1.0 | N | 0.818 | 0.397 | 0.422883881359 | gnomAD-4.0.0 | 3.42391E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.53498E-05 | None | 0 | 0 | 3.59984E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1368 | likely_benign | 0.1292 | benign | -1.02 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.485768462 | None | None | N |
| P/C | 0.7173 | likely_pathogenic | 0.6832 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| P/D | 0.6606 | likely_pathogenic | 0.6212 | pathogenic | -0.494 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| P/E | 0.4136 | ambiguous | 0.3791 | ambiguous | -0.55 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| P/F | 0.7672 | likely_pathogenic | 0.745 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/G | 0.4639 | ambiguous | 0.4251 | ambiguous | -1.255 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/H | 0.4335 | ambiguous | 0.4073 | ambiguous | -0.75 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| P/I | 0.5593 | ambiguous | 0.5355 | ambiguous | -0.513 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/K | 0.412 | ambiguous | 0.3705 | ambiguous | -0.843 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| P/L | 0.2581 | likely_benign | 0.2462 | benign | -0.513 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.487542889 | None | None | N |
| P/M | 0.5459 | ambiguous | 0.526 | ambiguous | -0.517 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| P/N | 0.5821 | likely_pathogenic | 0.5537 | ambiguous | -0.601 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| P/Q | 0.2815 | likely_benign | 0.2638 | benign | -0.795 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.494519799 | None | None | N |
| P/R | 0.3025 | likely_benign | 0.2732 | benign | -0.334 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.524746705 | None | None | N |
| P/S | 0.2523 | likely_benign | 0.2396 | benign | -1.096 | Destabilizing | 1.0 | D | 0.818 | deleterious | N | 0.4971146 | None | None | N |
| P/T | 0.201 | likely_benign | 0.1884 | benign | -1.038 | Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.52422663 | None | None | N |
| P/V | 0.3787 | ambiguous | 0.3619 | ambiguous | -0.645 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| P/W | 0.8352 | likely_pathogenic | 0.8148 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| P/Y | 0.7141 | likely_pathogenic | 0.6896 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.814 | 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.