Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18337 | 55234;55235;55236 | chr2:178602393;178602392;178602391 | chr2:179467120;179467119;179467118 |
| N2AB | 16696 | 50311;50312;50313 | chr2:178602393;178602392;178602391 | chr2:179467120;179467119;179467118 |
| N2A | 15769 | 47530;47531;47532 | chr2:178602393;178602392;178602391 | chr2:179467120;179467119;179467118 |
| N2B | 9272 | 28039;28040;28041 | chr2:178602393;178602392;178602391 | chr2:179467120;179467119;179467118 |
| Novex-1 | 9397 | 28414;28415;28416 | chr2:178602393;178602392;178602391 | chr2:179467120;179467119;179467118 |
| Novex-2 | 9464 | 28615;28616;28617 | chr2:178602393;178602392;178602391 | chr2:179467120;179467119;179467118 |
| 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 | rs764568599  |
-0.215 | 1.0 | N | 0.856 | 0.456 | 0.61577956724 | gnomAD-2.1.1 | 1.53053E-04 | None | None | None | None | N | None | 0 | 9.58578E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 8.31117E-04 |
| P/L | rs764568599 |
-0.215 | 1.0 | N | 0.856 | 0.456 | 0.61577956724 | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | N | None | 0 | 1.96954E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs764568599 |
-0.215 | 1.0 | N | 0.856 | 0.456 | 0.61577956724 | gnomAD-4.0.0 | 6.67007E-05 | None | None | None | None | N | None | 0 | 7.97556E-04 | None | 4.09433E-05 | 0 | None | 0 | 0 | 2.39623E-06 | 0 | 8.53874E-05 |
| P/R | None | None | 1.0 | N | 0.825 | 0.5 | 0.446111551642 | gnomAD-4.0.0 | 1.59324E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43345E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1257 | likely_benign | 0.1113 | benign | -0.602 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.461241439 | None | None | N |
| P/C | 0.5687 | likely_pathogenic | 0.5189 | ambiguous | -0.773 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| P/D | 0.4479 | ambiguous | 0.3771 | ambiguous | -0.12 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/E | 0.2903 | likely_benign | 0.2449 | benign | -0.206 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| P/F | 0.6242 | likely_pathogenic | 0.5981 | pathogenic | -0.663 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| P/G | 0.2924 | likely_benign | 0.2476 | benign | -0.77 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/H | 0.2513 | likely_benign | 0.2198 | benign | -0.247 | Destabilizing | 1.0 | D | 0.78 | deleterious | N | 0.478019046 | None | None | N |
| P/I | 0.4625 | ambiguous | 0.3947 | ambiguous | -0.297 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| P/K | 0.2936 | likely_benign | 0.2598 | benign | -0.515 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/L | 0.1844 | likely_benign | 0.2127 | benign | -0.297 | Destabilizing | 1.0 | D | 0.856 | deleterious | N | 0.449544365 | None | None | N |
| P/M | 0.422 | ambiguous | 0.3657 | ambiguous | -0.428 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| P/N | 0.3403 | ambiguous | 0.2656 | benign | -0.307 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/Q | 0.1802 | likely_benign | 0.1623 | benign | -0.495 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| P/R | 0.2295 | likely_benign | 0.2128 | benign | -0.031 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.421221614 | None | None | N |
| P/S | 0.1478 | likely_benign | 0.1263 | benign | -0.749 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.411119263 | None | None | N |
| P/T | 0.1288 | likely_benign | 0.0986 | benign | -0.722 | Destabilizing | 1.0 | D | 0.828 | deleterious | N | 0.377486692 | None | None | N |
| P/V | 0.3158 | likely_benign | 0.2666 | benign | -0.363 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/W | 0.7017 | likely_pathogenic | 0.6628 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| P/Y | 0.5404 | ambiguous | 0.4879 | ambiguous | -0.449 | Destabilizing | 1.0 | D | 0.821 | 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.