Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23833 | 71722;71723;71724 | chr2:178574635;178574634;178574633 | chr2:179439362;179439361;179439360 |
| N2AB | 22192 | 66799;66800;66801 | chr2:178574635;178574634;178574633 | chr2:179439362;179439361;179439360 |
| N2A | 21265 | 64018;64019;64020 | chr2:178574635;178574634;178574633 | chr2:179439362;179439361;179439360 |
| N2B | 14768 | 44527;44528;44529 | chr2:178574635;178574634;178574633 | chr2:179439362;179439361;179439360 |
| Novex-1 | 14893 | 44902;44903;44904 | chr2:178574635;178574634;178574633 | chr2:179439362;179439361;179439360 |
| Novex-2 | 14960 | 45103;45104;45105 | chr2:178574635;178574634;178574633 | chr2:179439362;179439361;179439360 |
| 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 | rs746871712  |
-0.355 | 1.0 | N | 0.877 | 0.524 | 0.583742250554 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| P/L | rs746871712 |
-0.355 | 1.0 | N | 0.877 | 0.524 | 0.583742250554 | gnomAD-4.0.0 | 2.73803E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59893E-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 | 0.5588 | ambiguous | 0.555 | ambiguous | -1.878 | Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.504374517 | None | None | N |
| P/C | 0.8976 | likely_pathogenic | 0.8953 | pathogenic | -1.903 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -2.356 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/E | 0.998 | likely_pathogenic | 0.9967 | pathogenic | -2.233 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/F | 0.9955 | likely_pathogenic | 0.9922 | pathogenic | -1.279 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/G | 0.9792 | likely_pathogenic | 0.9757 | pathogenic | -2.305 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| P/H | 0.9957 | likely_pathogenic | 0.9933 | pathogenic | -1.875 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.553776211 | None | None | N |
| P/I | 0.801 | likely_pathogenic | 0.7323 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/K | 0.9984 | likely_pathogenic | 0.9972 | pathogenic | -1.442 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| P/L | 0.5141 | ambiguous | 0.4592 | ambiguous | -0.735 | Destabilizing | 1.0 | D | 0.877 | deleterious | N | 0.478151235 | None | None | N |
| P/M | 0.9247 | likely_pathogenic | 0.8952 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/N | 0.9969 | likely_pathogenic | 0.996 | pathogenic | -1.596 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| P/Q | 0.9933 | likely_pathogenic | 0.9889 | pathogenic | -1.631 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/R | 0.9952 | likely_pathogenic | 0.9921 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.542419906 | None | None | N |
| P/S | 0.9573 | likely_pathogenic | 0.9483 | pathogenic | -2.202 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.535418467 | None | None | N |
| P/T | 0.8848 | likely_pathogenic | 0.8623 | pathogenic | -1.949 | Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.553269232 | None | None | N |
| P/V | 0.6268 | likely_pathogenic | 0.5668 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/W | 0.9995 | likely_pathogenic | 0.999 | pathogenic | -1.583 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/Y | 0.9985 | likely_pathogenic | 0.9974 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.9 | 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.