Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14874 | 44845;44846;44847 | chr2:178624660;178624659;178624658 | chr2:179489387;179489386;179489385 |
| N2AB | 13233 | 39922;39923;39924 | chr2:178624660;178624659;178624658 | chr2:179489387;179489386;179489385 |
| N2A | 12306 | 37141;37142;37143 | chr2:178624660;178624659;178624658 | chr2:179489387;179489386;179489385 |
| N2B | 5809 | 17650;17651;17652 | chr2:178624660;178624659;178624658 | chr2:179489387;179489386;179489385 |
| Novex-1 | 5934 | 18025;18026;18027 | chr2:178624660;178624659;178624658 | chr2:179489387;179489386;179489385 |
| Novex-2 | 6001 | 18226;18227;18228 | chr2:178624660;178624659;178624658 | chr2:179489387;179489386;179489385 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/Y | rs375446773  |
-1.685 | 1.0 | D | 0.903 | 0.616 | None | gnomAD-4.0.0 | 1.20034E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8972 | likely_pathogenic | 0.9015 | pathogenic | -1.542 | Destabilizing | 0.998 | D | 0.649 | neutral | None | None | disulfide | None | N |
| C/D | 0.9985 | likely_pathogenic | 0.9983 | pathogenic | -1.773 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.54 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | disulfide | None | N |
| C/F | 0.961 | likely_pathogenic | 0.953 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.615115182 | disulfide | None | N |
| C/G | 0.7845 | likely_pathogenic | 0.7943 | pathogenic | -1.857 | Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.542375846 | disulfide | None | N |
| C/H | 0.9986 | likely_pathogenic | 0.9982 | pathogenic | -2.082 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | disulfide | None | N |
| C/I | 0.965 | likely_pathogenic | 0.9499 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.372 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | disulfide | None | N |
| C/L | 0.9506 | likely_pathogenic | 0.9413 | pathogenic | -0.686 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9704 | likely_pathogenic | 0.9652 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | disulfide | None | N |
| C/N | 0.994 | likely_pathogenic | 0.9926 | pathogenic | -1.939 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.439 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9975 | likely_pathogenic | 0.9967 | pathogenic | -1.778 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.645448344 | disulfide | None | N |
| C/S | 0.9453 | likely_pathogenic | 0.9393 | pathogenic | -2.188 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.579578806 | disulfide | None | N |
| C/T | 0.9458 | likely_pathogenic | 0.9392 | pathogenic | -1.802 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | disulfide | None | N |
| C/V | 0.882 | likely_pathogenic | 0.8488 | pathogenic | -0.953 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9954 | likely_pathogenic | 0.9939 | pathogenic | -1.45 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.645448344 | disulfide | None | N |
| C/Y | 0.9886 | likely_pathogenic | 0.9857 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.645448344 | disulfide | 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.