Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29983 | 90172;90173;90174 | chr2:178552953;178552952;178552951 | chr2:179417680;179417679;179417678 |
| N2AB | 28342 | 85249;85250;85251 | chr2:178552953;178552952;178552951 | chr2:179417680;179417679;179417678 |
| N2A | 27415 | 82468;82469;82470 | chr2:178552953;178552952;178552951 | chr2:179417680;179417679;179417678 |
| N2B | 20918 | 62977;62978;62979 | chr2:178552953;178552952;178552951 | chr2:179417680;179417679;179417678 |
| Novex-1 | 21043 | 63352;63353;63354 | chr2:178552953;178552952;178552951 | chr2:179417680;179417679;179417678 |
| Novex-2 | 21110 | 63553;63554;63555 | chr2:178552953;178552952;178552951 | chr2:179417680;179417679;179417678 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.994 | N | 0.476 | 0.349 | 0.601816880433 | gnomAD-4.0.0 | 7.202E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56256E-06 | 0 | 3.66354E-05 |
| V/L | None | None | 0.979 | N | 0.42 | 0.174 | 0.459192005304 | gnomAD-4.0.0 | 6.84415E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15939E-05 | 0 |
| V/M | rs397517746  |
-0.366 | 1.0 | N | 0.712 | 0.32 | None | gnomAD-2.1.1 | 1.07345E-04 | None | None | None | None | I | None | 4.13E-05 | 3.1135E-04 | None | 0 | 5.14E-05 | None | 0 | None | 0 | 1.25266E-04 | 1.40964E-04 |
| V/M | rs397517746 |
-0.366 | 1.0 | N | 0.712 | 0.32 | None | gnomAD-3.1.2 | 9.2E-05 | None | None | None | None | I | None | 2.41E-05 | 1.3101E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.61693E-04 | 0 | 0 |
| V/M | rs397517746 |
-0.366 | 1.0 | N | 0.712 | 0.32 | None | gnomAD-4.0.0 | 8.86406E-05 | None | None | None | None | I | None | 2.67001E-05 | 2.33419E-04 | None | 0 | 0 | None | 0 | 0 | 1.00015E-04 | 0 | 1.44083E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1973 | likely_benign | 0.1698 | benign | -1.256 | Destabilizing | 0.994 | D | 0.476 | neutral | N | 0.473103531 | None | None | I |
| V/C | 0.7257 | likely_pathogenic | 0.6956 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| V/D | 0.6959 | likely_pathogenic | 0.6386 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| V/E | 0.6047 | likely_pathogenic | 0.5576 | ambiguous | -0.665 | Destabilizing | 0.999 | D | 0.79 | deleterious | N | 0.51868011 | None | None | I |
| V/F | 0.2299 | likely_benign | 0.198 | benign | -0.777 | Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | I |
| V/G | 0.3564 | ambiguous | 0.3088 | benign | -1.608 | Destabilizing | 0.999 | D | 0.799 | deleterious | N | 0.499628031 | None | None | I |
| V/H | 0.7808 | likely_pathogenic | 0.7357 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| V/I | 0.0775 | likely_benign | 0.0726 | benign | -0.379 | Destabilizing | 0.611 | D | 0.265 | neutral | None | None | None | None | I |
| V/K | 0.7333 | likely_pathogenic | 0.6828 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| V/L | 0.2314 | likely_benign | 0.1906 | benign | -0.379 | Destabilizing | 0.979 | D | 0.42 | neutral | N | 0.465822149 | None | None | I |
| V/M | 0.2144 | likely_benign | 0.1846 | benign | -0.482 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | N | 0.507123222 | None | None | I |
| V/N | 0.5357 | ambiguous | 0.4624 | ambiguous | -1.036 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| V/P | 0.7973 | likely_pathogenic | 0.7533 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| V/Q | 0.6141 | likely_pathogenic | 0.5585 | ambiguous | -1.062 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| V/R | 0.6992 | likely_pathogenic | 0.6525 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| V/S | 0.328 | likely_benign | 0.2831 | benign | -1.644 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| V/T | 0.2885 | likely_benign | 0.2465 | benign | -1.449 | Destabilizing | 0.996 | D | 0.595 | neutral | None | None | None | None | I |
| V/W | 0.9103 | likely_pathogenic | 0.8877 | pathogenic | -0.972 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| V/Y | 0.6793 | likely_pathogenic | 0.6261 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | I |
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.