Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15921 | 47986;47987;47988 | chr2:178617234;178617233;178617232 | chr2:179481961;179481960;179481959 |
| N2AB | 14280 | 43063;43064;43065 | chr2:178617234;178617233;178617232 | chr2:179481961;179481960;179481959 |
| N2A | 13353 | 40282;40283;40284 | chr2:178617234;178617233;178617232 | chr2:179481961;179481960;179481959 |
| N2B | 6856 | 20791;20792;20793 | chr2:178617234;178617233;178617232 | chr2:179481961;179481960;179481959 |
| Novex-1 | 6981 | 21166;21167;21168 | chr2:178617234;178617233;178617232 | chr2:179481961;179481960;179481959 |
| Novex-2 | 7048 | 21367;21368;21369 | chr2:178617234;178617233;178617232 | chr2:179481961;179481960;179481959 |
| 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/A | None | None | 0.025 | D | 0.332 | 0.343 | 0.587570084647 | gnomAD-4.0.0 | 2.15989E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.7841E-06 | 0 | 0 |
| V/F | None | None | 0.967 | D | 0.785 | 0.396 | 0.740245011328 | gnomAD-4.0.0 | 7.19923E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.73714E-05 |
| V/I | rs778682806  |
None | 0.63 | N | 0.609 | 0.24 | 0.44551302605 | gnomAD-4.0.0 | 7.19923E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.28057E-07 | 0 | 0 |
| V/L | rs778682806 |
-0.153 | 0.63 | N | 0.593 | 0.305 | 0.588023434665 | gnomAD-2.1.1 | 1.28E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.00543E-04 | None | 0 | 0 | 0 |
| V/L | rs778682806 |
-0.153 | 0.63 | N | 0.593 | 0.305 | 0.588023434665 | gnomAD-4.0.0 | 7.19923E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.28057E-07 | 1.19367E-04 | 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 | 0.6437 | likely_pathogenic | 0.6513 | pathogenic | -1.932 | Destabilizing | 0.025 | N | 0.332 | neutral | D | 0.541592364 | None | None | N |
| V/C | 0.9175 | likely_pathogenic | 0.9341 | pathogenic | -1.476 | Destabilizing | 0.997 | D | 0.764 | deleterious | None | None | None | None | N |
| V/D | 0.9629 | likely_pathogenic | 0.9524 | pathogenic | -2.366 | Highly Destabilizing | 0.983 | D | 0.857 | deleterious | N | 0.483825536 | None | None | N |
| V/E | 0.9131 | likely_pathogenic | 0.8957 | pathogenic | -2.109 | Highly Destabilizing | 0.975 | D | 0.813 | deleterious | None | None | None | None | N |
| V/F | 0.6413 | likely_pathogenic | 0.6466 | pathogenic | -1.132 | Destabilizing | 0.967 | D | 0.785 | deleterious | D | 0.612591426 | None | None | N |
| V/G | 0.8004 | likely_pathogenic | 0.7914 | pathogenic | -2.505 | Highly Destabilizing | 0.805 | D | 0.813 | deleterious | D | 0.702701868 | None | None | N |
| V/H | 0.9799 | likely_pathogenic | 0.9807 | pathogenic | -2.251 | Highly Destabilizing | 0.999 | D | 0.851 | deleterious | None | None | None | None | N |
| V/I | 0.1198 | likely_benign | 0.1281 | benign | -0.322 | Destabilizing | 0.63 | D | 0.609 | neutral | N | 0.485803742 | None | None | N |
| V/K | 0.9535 | likely_pathogenic | 0.9461 | pathogenic | -1.618 | Destabilizing | 0.975 | D | 0.807 | deleterious | None | None | None | None | N |
| V/L | 0.5182 | ambiguous | 0.5705 | pathogenic | -0.322 | Destabilizing | 0.63 | D | 0.593 | neutral | N | 0.470615037 | None | None | N |
| V/M | 0.4065 | ambiguous | 0.4488 | ambiguous | -0.405 | Destabilizing | 0.693 | D | 0.537 | neutral | None | None | None | None | N |
| V/N | 0.9221 | likely_pathogenic | 0.9171 | pathogenic | -2.018 | Highly Destabilizing | 0.987 | D | 0.843 | deleterious | None | None | None | None | N |
| V/P | 0.9694 | likely_pathogenic | 0.9664 | pathogenic | -0.832 | Destabilizing | 0.987 | D | 0.821 | deleterious | None | None | None | None | N |
| V/Q | 0.9239 | likely_pathogenic | 0.9174 | pathogenic | -1.778 | Destabilizing | 0.987 | D | 0.811 | deleterious | None | None | None | None | N |
| V/R | 0.9431 | likely_pathogenic | 0.934 | pathogenic | -1.608 | Destabilizing | 0.987 | D | 0.85 | deleterious | None | None | None | None | N |
| V/S | 0.8741 | likely_pathogenic | 0.8704 | pathogenic | -2.672 | Highly Destabilizing | 0.845 | D | 0.791 | deleterious | None | None | None | None | N |
| V/T | 0.7849 | likely_pathogenic | 0.7931 | pathogenic | -2.245 | Highly Destabilizing | 0.916 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/W | 0.9898 | likely_pathogenic | 0.9905 | pathogenic | -1.618 | Destabilizing | 0.999 | D | 0.833 | deleterious | None | None | None | None | N |
| V/Y | 0.9359 | likely_pathogenic | 0.9391 | pathogenic | -1.198 | Destabilizing | 0.996 | D | 0.76 | 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.