Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33713 | 101362;101363;101364 | chr2:178535478;178535477;178535476 | chr2:179400205;179400204;179400203 |
| N2AB | 32072 | 96439;96440;96441 | chr2:178535478;178535477;178535476 | chr2:179400205;179400204;179400203 |
| N2A | 31145 | 93658;93659;93660 | chr2:178535478;178535477;178535476 | chr2:179400205;179400204;179400203 |
| N2B | 24648 | 74167;74168;74169 | chr2:178535478;178535477;178535476 | chr2:179400205;179400204;179400203 |
| Novex-1 | 24773 | 74542;74543;74544 | chr2:178535478;178535477;178535476 | chr2:179400205;179400204;179400203 |
| Novex-2 | 24840 | 74743;74744;74745 | chr2:178535478;178535477;178535476 | chr2:179400205;179400204;179400203 |
| 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/A | None | None | 0.04 | N | 0.508 | 0.589 | 0.309530620856 | gnomAD-4.0.0 | 6.84208E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9945E-07 | 0 | 0 |
| P/L | rs1317049640  |
-0.771 | 0.997 | D | 0.872 | 0.677 | 0.767357779069 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| P/L | rs1317049640 |
-0.771 | 0.997 | D | 0.872 | 0.677 | 0.767357779069 | gnomAD-4.0.0 | 2.0526E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69834E-06 | 0 | 0 |
| P/S | None | None | 0.988 | N | 0.765 | 0.637 | 0.438383285633 | gnomAD-4.0.0 | 6.84208E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9945E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6966 | likely_pathogenic | 0.6709 | pathogenic | -2.09 | Highly Destabilizing | 0.04 | N | 0.508 | neutral | N | 0.518995366 | None | None | N |
| P/C | 0.977 | likely_pathogenic | 0.9767 | pathogenic | -1.819 | Destabilizing | 0.998 | D | 0.895 | deleterious | None | None | None | None | N |
| P/D | 0.995 | likely_pathogenic | 0.9948 | pathogenic | -2.858 | Highly Destabilizing | 0.968 | D | 0.826 | deleterious | None | None | None | None | N |
| P/E | 0.9918 | likely_pathogenic | 0.9906 | pathogenic | -2.767 | Highly Destabilizing | 0.96 | D | 0.814 | deleterious | None | None | None | None | N |
| P/F | 0.9984 | likely_pathogenic | 0.9979 | pathogenic | -1.543 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/G | 0.9542 | likely_pathogenic | 0.9579 | pathogenic | -2.512 | Highly Destabilizing | 0.956 | D | 0.805 | deleterious | None | None | None | None | N |
| P/H | 0.9914 | likely_pathogenic | 0.9896 | pathogenic | -2.151 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/I | 0.9877 | likely_pathogenic | 0.9844 | pathogenic | -0.965 | Destabilizing | 0.999 | D | 0.885 | deleterious | None | None | None | None | N |
| P/K | 0.9952 | likely_pathogenic | 0.9945 | pathogenic | -1.857 | Destabilizing | 0.999 | D | 0.817 | deleterious | None | None | None | None | N |
| P/L | 0.9501 | likely_pathogenic | 0.9347 | pathogenic | -0.965 | Destabilizing | 0.997 | D | 0.872 | deleterious | D | 0.539732967 | None | None | N |
| P/M | 0.9897 | likely_pathogenic | 0.9865 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/N | 0.9928 | likely_pathogenic | 0.992 | pathogenic | -1.956 | Destabilizing | 0.995 | D | 0.872 | deleterious | None | None | None | None | N |
| P/Q | 0.989 | likely_pathogenic | 0.9858 | pathogenic | -2.029 | Highly Destabilizing | 0.998 | D | 0.816 | deleterious | D | 0.54586226 | None | None | N |
| P/R | 0.9876 | likely_pathogenic | 0.9847 | pathogenic | -1.388 | Destabilizing | 0.998 | D | 0.881 | deleterious | N | 0.521579487 | None | None | N |
| P/S | 0.9482 | likely_pathogenic | 0.9376 | pathogenic | -2.477 | Highly Destabilizing | 0.988 | D | 0.765 | deleterious | N | 0.500561943 | None | None | N |
| P/T | 0.9269 | likely_pathogenic | 0.9095 | pathogenic | -2.267 | Highly Destabilizing | 0.986 | D | 0.801 | deleterious | D | 0.540746926 | None | None | N |
| P/V | 0.9554 | likely_pathogenic | 0.9433 | pathogenic | -1.31 | Destabilizing | 0.985 | D | 0.861 | deleterious | None | None | None | None | N |
| P/W | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.932 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/Y | 0.9982 | likely_pathogenic | 0.9978 | pathogenic | -1.62 | Destabilizing | 1.0 | D | 0.901 | 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.