Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18168 | 54727;54728;54729 | chr2:178604185;178604184;178604183 | chr2:179468912;179468911;179468910 |
| N2AB | 16527 | 49804;49805;49806 | chr2:178604185;178604184;178604183 | chr2:179468912;179468911;179468910 |
| N2A | 15600 | 47023;47024;47025 | chr2:178604185;178604184;178604183 | chr2:179468912;179468911;179468910 |
| N2B | 9103 | 27532;27533;27534 | chr2:178604185;178604184;178604183 | chr2:179468912;179468911;179468910 |
| Novex-1 | 9228 | 27907;27908;27909 | chr2:178604185;178604184;178604183 | chr2:179468912;179468911;179468910 |
| Novex-2 | 9295 | 28108;28109;28110 | chr2:178604185;178604184;178604183 | chr2:179468912;179468911;179468910 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs2054202979  |
None | 1.0 | N | 0.829 | 0.522 | 0.691195176727 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs2054202979 |
None | 1.0 | N | 0.829 | 0.522 | 0.691195176727 | gnomAD-4.0.0 | 6.58207E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47193E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4744 | ambiguous | 0.3787 | ambiguous | -0.881 | Destabilizing | 1.0 | D | 0.587 | neutral | N | 0.480052064 | None | None | I |
| G/C | 0.8012 | likely_pathogenic | 0.7329 | pathogenic | -1.119 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/D | 0.8236 | likely_pathogenic | 0.7722 | pathogenic | -1.997 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/E | 0.8679 | likely_pathogenic | 0.7855 | pathogenic | -2.058 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | N | 0.479291595 | None | None | I |
| G/F | 0.9452 | likely_pathogenic | 0.9124 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/H | 0.9507 | likely_pathogenic | 0.9184 | pathogenic | -1.472 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/I | 0.9437 | likely_pathogenic | 0.8713 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/K | 0.9611 | likely_pathogenic | 0.9272 | pathogenic | -1.439 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/L | 0.8977 | likely_pathogenic | 0.8143 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/M | 0.9465 | likely_pathogenic | 0.8955 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/N | 0.8746 | likely_pathogenic | 0.8261 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | I |
| G/P | 0.9877 | likely_pathogenic | 0.9833 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/Q | 0.9151 | likely_pathogenic | 0.8495 | pathogenic | -1.431 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/R | 0.9364 | likely_pathogenic | 0.8865 | pathogenic | -1.059 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.502297376 | None | None | I |
| G/S | 0.3669 | ambiguous | 0.2929 | benign | -1.338 | Destabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | I |
| G/T | 0.8074 | likely_pathogenic | 0.6865 | pathogenic | -1.341 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/V | 0.9002 | likely_pathogenic | 0.7989 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.502804355 | None | None | I |
| G/W | 0.9419 | likely_pathogenic | 0.9176 | pathogenic | -1.613 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/Y | 0.9317 | likely_pathogenic | 0.8929 | pathogenic | -1.227 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
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.