Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24344 | 73255;73256;73257 | chr2:178573102;178573101;178573100 | chr2:179437829;179437828;179437827 |
| N2AB | 22703 | 68332;68333;68334 | chr2:178573102;178573101;178573100 | chr2:179437829;179437828;179437827 |
| N2A | 21776 | 65551;65552;65553 | chr2:178573102;178573101;178573100 | chr2:179437829;179437828;179437827 |
| N2B | 15279 | 46060;46061;46062 | chr2:178573102;178573101;178573100 | chr2:179437829;179437828;179437827 |
| Novex-1 | 15404 | 46435;46436;46437 | chr2:178573102;178573101;178573100 | chr2:179437829;179437828;179437827 |
| Novex-2 | 15471 | 46636;46637;46638 | chr2:178573102;178573101;178573100 | chr2:179437829;179437828;179437827 |
| 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 | 0.845 | 0.738 | 0.862546450212 | gnomAD-4.0.0 | 1.59238E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85999E-06 | 0 | 0 |
| W/L | None | None | 1.0 | D | 0.86 | 0.711 | 0.91742934021 | gnomAD-4.0.0 | 1.59234E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78242E-05 | None | 0 | 0 | 0 | 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 | 0.9985 | likely_pathogenic | 0.9971 | pathogenic | -3.452 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| W/C | 0.9987 | likely_pathogenic | 0.998 | pathogenic | -2.392 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.685583509 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.529 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| W/E | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.411 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| W/F | 0.8689 | likely_pathogenic | 0.8398 | pathogenic | -2.169 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| W/G | 0.9915 | likely_pathogenic | 0.9885 | pathogenic | -3.709 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.685583509 | None | None | N |
| W/H | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -2.582 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/I | 0.9979 | likely_pathogenic | 0.9958 | pathogenic | -2.47 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.879 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| W/L | 0.9928 | likely_pathogenic | 0.9879 | pathogenic | -2.47 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.668958735 | None | None | N |
| W/M | 0.9982 | likely_pathogenic | 0.9969 | pathogenic | -2.084 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| W/N | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.57 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| W/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.829 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.4 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.512 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | D | 0.685381705 | None | None | N |
| W/S | 0.998 | likely_pathogenic | 0.9969 | pathogenic | -3.8 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.685583509 | None | None | N |
| W/T | 0.9993 | likely_pathogenic | 0.9987 | pathogenic | -3.609 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| W/V | 0.9971 | likely_pathogenic | 0.9943 | pathogenic | -2.829 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/Y | 0.9802 | likely_pathogenic | 0.9764 | pathogenic | -2.051 | Highly Destabilizing | 1.0 | D | 0.852 | 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.