Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25622 | 77089;77090;77091 | chr2:178569268;178569267;178569266 | chr2:179433995;179433994;179433993 |
| N2AB | 23981 | 72166;72167;72168 | chr2:178569268;178569267;178569266 | chr2:179433995;179433994;179433993 |
| N2A | 23054 | 69385;69386;69387 | chr2:178569268;178569267;178569266 | chr2:179433995;179433994;179433993 |
| N2B | 16557 | 49894;49895;49896 | chr2:178569268;178569267;178569266 | chr2:179433995;179433994;179433993 |
| Novex-1 | 16682 | 50269;50270;50271 | chr2:178569268;178569267;178569266 | chr2:179433995;179433994;179433993 |
| Novex-2 | 16749 | 50470;50471;50472 | chr2:178569268;178569267;178569266 | chr2:179433995;179433994;179433993 |
| 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/R | None | None | 1.0 | D | 0.916 | 0.861 | 0.905808349657 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.9966 | likely_pathogenic | 0.9966 | pathogenic | -3.577 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/C | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -2.071 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.684054822 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.949 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| W/E | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.837 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| W/F | 0.8285 | likely_pathogenic | 0.8189 | pathogenic | -2.291 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/G | 0.988 | likely_pathogenic | 0.9887 | pathogenic | -3.811 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.684054822 | None | None | N |
| W/H | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -2.855 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| W/I | 0.9951 | likely_pathogenic | 0.9948 | pathogenic | -2.655 | Highly Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.866 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| W/L | 0.9864 | likely_pathogenic | 0.986 | pathogenic | -2.655 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.682843996 | None | None | N |
| W/M | 0.9963 | likely_pathogenic | 0.9962 | pathogenic | -2.098 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| W/N | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.563 | Highly Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | None | None | N |
| W/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.995 | Highly Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.419 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| W/R | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.513 | Highly Destabilizing | 1.0 | D | 0.916 | deleterious | D | 0.684054822 | None | None | N |
| W/S | 0.9962 | likely_pathogenic | 0.9961 | pathogenic | -3.681 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.668035461 | None | None | N |
| W/T | 0.9983 | likely_pathogenic | 0.9982 | pathogenic | -3.494 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| W/V | 0.9938 | likely_pathogenic | 0.9935 | pathogenic | -2.995 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/Y | 0.969 | likely_pathogenic | 0.9668 | pathogenic | -2.195 | Highly Destabilizing | 1.0 | D | 0.841 | 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.