Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18674 | 56245;56246;56247 | chr2:178600884;178600883;178600882 | chr2:179465611;179465610;179465609 |
| N2AB | 17033 | 51322;51323;51324 | chr2:178600884;178600883;178600882 | chr2:179465611;179465610;179465609 |
| N2A | 16106 | 48541;48542;48543 | chr2:178600884;178600883;178600882 | chr2:179465611;179465610;179465609 |
| N2B | 9609 | 29050;29051;29052 | chr2:178600884;178600883;178600882 | chr2:179465611;179465610;179465609 |
| Novex-1 | 9734 | 29425;29426;29427 | chr2:178600884;178600883;178600882 | chr2:179465611;179465610;179465609 |
| Novex-2 | 9801 | 29626;29627;29628 | chr2:178600884;178600883;178600882 | chr2:179465611;179465610;179465609 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | None | None | 0.132 | N | 0.391 | 0.154 | 0.269558022972 | gnomAD-4.0.0 | 2.05385E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79984E-06 | 0 | 1.65793E-05 |
| V/L | rs753094651  |
-0.082 | 0.702 | N | 0.593 | 0.18 | 0.254244900254 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.98E-05 | 0 | None | 0 | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1072 | likely_benign | 0.0924 | benign | -1.585 | Destabilizing | 0.06 | N | 0.327 | neutral | N | 0.42454992 | None | None | N |
| V/C | 0.7199 | likely_pathogenic | 0.7013 | pathogenic | -1.169 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | N |
| V/D | 0.5684 | likely_pathogenic | 0.5518 | ambiguous | -1.589 | Destabilizing | 0.988 | D | 0.754 | deleterious | N | 0.473597284 | None | None | N |
| V/E | 0.4382 | ambiguous | 0.4383 | ambiguous | -1.433 | Destabilizing | 0.991 | D | 0.629 | neutral | None | None | None | None | N |
| V/F | 0.2864 | likely_benign | 0.2539 | benign | -0.918 | Destabilizing | 0.988 | D | 0.631 | neutral | N | 0.472583326 | None | None | N |
| V/G | 0.2806 | likely_benign | 0.2536 | benign | -2.068 | Highly Destabilizing | 0.851 | D | 0.711 | prob.delet. | N | 0.510880826 | None | None | N |
| V/H | 0.7284 | likely_pathogenic | 0.7013 | pathogenic | -1.697 | Destabilizing | 0.999 | D | 0.788 | deleterious | None | None | None | None | N |
| V/I | 0.0955 | likely_benign | 0.0872 | benign | -0.287 | Destabilizing | 0.132 | N | 0.391 | neutral | N | 0.500181043 | None | None | N |
| V/K | 0.5321 | ambiguous | 0.5137 | ambiguous | -1.283 | Destabilizing | 0.981 | D | 0.642 | neutral | None | None | None | None | N |
| V/L | 0.2857 | likely_benign | 0.2572 | benign | -0.287 | Destabilizing | 0.702 | D | 0.593 | neutral | N | 0.495255226 | None | None | N |
| V/M | 0.2 | likely_benign | 0.1824 | benign | -0.327 | Destabilizing | 0.991 | D | 0.521 | neutral | None | None | None | None | N |
| V/N | 0.4307 | ambiguous | 0.396 | ambiguous | -1.436 | Destabilizing | 0.997 | D | 0.768 | deleterious | None | None | None | None | N |
| V/P | 0.7259 | likely_pathogenic | 0.7177 | pathogenic | -0.687 | Destabilizing | 0.991 | D | 0.683 | prob.neutral | None | None | None | None | N |
| V/Q | 0.4779 | ambiguous | 0.4477 | ambiguous | -1.353 | Destabilizing | 0.997 | D | 0.703 | prob.delet. | None | None | None | None | N |
| V/R | 0.462 | ambiguous | 0.4413 | ambiguous | -1.066 | Destabilizing | 0.991 | D | 0.769 | deleterious | None | None | None | None | N |
| V/S | 0.211 | likely_benign | 0.1855 | benign | -2.091 | Highly Destabilizing | 0.883 | D | 0.652 | prob.neutral | None | None | None | None | N |
| V/T | 0.1412 | likely_benign | 0.1235 | benign | -1.789 | Destabilizing | 0.938 | D | 0.644 | neutral | None | None | None | None | N |
| V/W | 0.8933 | likely_pathogenic | 0.8689 | pathogenic | -1.321 | Destabilizing | 0.999 | D | 0.736 | deleterious | None | None | None | None | N |
| V/Y | 0.6962 | likely_pathogenic | 0.6699 | pathogenic | -0.91 | Destabilizing | 0.997 | D | 0.608 | 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.