Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20112 | 60559;60560;60561 | chr2:178591391;178591390;178591389 | chr2:179456118;179456117;179456116 |
| N2AB | 18471 | 55636;55637;55638 | chr2:178591391;178591390;178591389 | chr2:179456118;179456117;179456116 |
| N2A | 17544 | 52855;52856;52857 | chr2:178591391;178591390;178591389 | chr2:179456118;179456117;179456116 |
| N2B | 11047 | 33364;33365;33366 | chr2:178591391;178591390;178591389 | chr2:179456118;179456117;179456116 |
| Novex-1 | 11172 | 33739;33740;33741 | chr2:178591391;178591390;178591389 | chr2:179456118;179456117;179456116 |
| Novex-2 | 11239 | 33940;33941;33942 | chr2:178591391;178591390;178591389 | chr2:179456118;179456117;179456116 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | D | 0.791 | 0.819 | 0.872099035071 | gnomAD-4.0.0 | 6.84539E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99763E-07 | 0 | 0 |
| W/R | rs547962583  |
-1.926 | 1.0 | D | 0.868 | 0.922 | 0.942845101236 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94326E-04 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs547962583 |
-1.926 | 1.0 | D | 0.868 | 0.922 | 0.942845101236 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| W/R | rs547962583 |
-1.926 | 1.0 | D | 0.868 | 0.922 | 0.942845101236 | gnomAD-4.0.0 | 1.85989E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23115E-05 | None | 0 | 0 | 1.69583E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9965 | likely_pathogenic | 0.9969 | pathogenic | -2.925 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/C | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -1.787 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.70445844 | None | None | N |
| W/D | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.753 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/E | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -2.627 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| W/F | 0.6016 | likely_pathogenic | 0.6462 | pathogenic | -1.674 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/G | 0.9868 | likely_pathogenic | 0.9889 | pathogenic | -3.178 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.704256636 | None | None | N |
| W/H | 0.9972 | likely_pathogenic | 0.9978 | pathogenic | -2.003 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| W/I | 0.9556 | likely_pathogenic | 0.9602 | pathogenic | -1.982 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.25 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| W/L | 0.938 | likely_pathogenic | 0.9409 | pathogenic | -1.982 | Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.704256636 | None | None | N |
| W/M | 0.9829 | likely_pathogenic | 0.9843 | pathogenic | -1.603 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| W/N | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.895 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| W/P | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.323 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.713 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/R | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.997 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.70445844 | None | None | N |
| W/S | 0.9972 | likely_pathogenic | 0.9975 | pathogenic | -3.17 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.70445844 | None | None | N |
| W/T | 0.9972 | likely_pathogenic | 0.9976 | pathogenic | -2.977 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| W/V | 0.9772 | likely_pathogenic | 0.9801 | pathogenic | -2.323 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| W/Y | 0.9039 | likely_pathogenic | 0.9166 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.789 | 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.