Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29261 | 88006;88007;88008 | chr2:178557481;178557480;178557479 | chr2:179422208;179422207;179422206 |
| N2AB | 27620 | 83083;83084;83085 | chr2:178557481;178557480;178557479 | chr2:179422208;179422207;179422206 |
| N2A | 26693 | 80302;80303;80304 | chr2:178557481;178557480;178557479 | chr2:179422208;179422207;179422206 |
| N2B | 20196 | 60811;60812;60813 | chr2:178557481;178557480;178557479 | chr2:179422208;179422207;179422206 |
| Novex-1 | 20321 | 61186;61187;61188 | chr2:178557481;178557480;178557479 | chr2:179422208;179422207;179422206 |
| Novex-2 | 20388 | 61387;61388;61389 | chr2:178557481;178557480;178557479 | chr2:179422208;179422207;179422206 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/T | None | None | 1.0 | D | 0.855 | 0.697 | 0.796983491231 | gnomAD-4.0.0 | 1.59108E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8475 | likely_pathogenic | 0.8514 | pathogenic | -1.683 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.625243981 | None | None | N |
| P/C | 0.9867 | likely_pathogenic | 0.9871 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| P/D | 0.997 | likely_pathogenic | 0.9976 | pathogenic | -1.652 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/E | 0.9952 | likely_pathogenic | 0.9961 | pathogenic | -1.646 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/F | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.32 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/G | 0.9786 | likely_pathogenic | 0.9828 | pathogenic | -2.023 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| P/H | 0.9944 | likely_pathogenic | 0.9959 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/I | 0.9934 | likely_pathogenic | 0.9931 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/K | 0.9978 | likely_pathogenic | 0.9984 | pathogenic | -1.495 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/L | 0.9656 | likely_pathogenic | 0.9719 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.624840373 | None | None | N |
| P/M | 0.9937 | likely_pathogenic | 0.9938 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/N | 0.9961 | likely_pathogenic | 0.9964 | pathogenic | -1.236 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/Q | 0.9936 | likely_pathogenic | 0.9953 | pathogenic | -1.401 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.625849394 | None | None | N |
| P/R | 0.9929 | likely_pathogenic | 0.9956 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.904 | deleterious | D | 0.62564759 | None | None | N |
| P/S | 0.9692 | likely_pathogenic | 0.9735 | pathogenic | -1.74 | Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.563548905 | None | None | N |
| P/T | 0.9601 | likely_pathogenic | 0.9604 | pathogenic | -1.622 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.615927035 | None | None | N |
| P/V | 0.9746 | likely_pathogenic | 0.9753 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| P/Y | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.904 | 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.