Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29015 | 87268;87269;87270 | chr2:178558416;178558415;178558414 | chr2:179423143;179423142;179423141 |
| N2AB | 27374 | 82345;82346;82347 | chr2:178558416;178558415;178558414 | chr2:179423143;179423142;179423141 |
| N2A | 26447 | 79564;79565;79566 | chr2:178558416;178558415;178558414 | chr2:179423143;179423142;179423141 |
| N2B | 19950 | 60073;60074;60075 | chr2:178558416;178558415;178558414 | chr2:179423143;179423142;179423141 |
| Novex-1 | 20075 | 60448;60449;60450 | chr2:178558416;178558415;178558414 | chr2:179423143;179423142;179423141 |
| Novex-2 | 20142 | 60649;60650;60651 | chr2:178558416;178558415;178558414 | chr2:179423143;179423142;179423141 |
| 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 | 1.0 | D | 0.667 | 0.819 | 0.806032788725 | gnomAD-4.0.0 | 1.59142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-05 | 0 |
| V/L | rs1665318547  |
None | 0.995 | N | 0.677 | 0.593 | 0.717325816558 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs1665318547 |
None | 0.995 | N | 0.677 | 0.593 | 0.717325816558 | gnomAD-4.0.0 | 6.57272E-06 | None | None | None | None | N | None | 2.41324E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs1665318547 |
None | 1.0 | D | 0.766 | 0.621 | 0.769067109552 | gnomAD-4.0.0 | 2.18955E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87823E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8396 | likely_pathogenic | 0.8269 | pathogenic | -2.62 | Highly Destabilizing | 1.0 | D | 0.667 | neutral | D | 0.554125283 | None | None | N |
| V/C | 0.9648 | likely_pathogenic | 0.9585 | pathogenic | -1.841 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| V/D | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -3.273 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| V/E | 0.9959 | likely_pathogenic | 0.9957 | pathogenic | -2.99 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.635984276 | None | None | N |
| V/F | 0.9333 | likely_pathogenic | 0.937 | pathogenic | -1.509 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| V/G | 0.9317 | likely_pathogenic | 0.9266 | pathogenic | -3.121 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.635984276 | None | None | N |
| V/H | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -2.794 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| V/I | 0.1095 | likely_benign | 0.1028 | benign | -1.127 | Destabilizing | 0.999 | D | 0.6 | neutral | None | None | None | None | N |
| V/K | 0.9972 | likely_pathogenic | 0.9974 | pathogenic | -2.124 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/L | 0.7469 | likely_pathogenic | 0.7353 | pathogenic | -1.127 | Destabilizing | 0.995 | D | 0.677 | prob.neutral | N | 0.512050515 | None | None | N |
| V/M | 0.8464 | likely_pathogenic | 0.8413 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.549605832 | None | None | N |
| V/N | 0.9941 | likely_pathogenic | 0.9932 | pathogenic | -2.774 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| V/P | 0.9968 | likely_pathogenic | 0.997 | pathogenic | -1.616 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| V/Q | 0.9951 | likely_pathogenic | 0.9951 | pathogenic | -2.452 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| V/R | 0.993 | likely_pathogenic | 0.9935 | pathogenic | -2.155 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| V/S | 0.9678 | likely_pathogenic | 0.9616 | pathogenic | -3.159 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| V/T | 0.9273 | likely_pathogenic | 0.9146 | pathogenic | -2.749 | Highly Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| V/W | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.858 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| V/Y | 0.9936 | likely_pathogenic | 0.9939 | pathogenic | -1.748 | Destabilizing | 1.0 | D | 0.805 | 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.