Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32472 | 97639;97640;97641 | chr2:178542342;178542341;178542340 | chr2:179407069;179407068;179407067 |
| N2AB | 30831 | 92716;92717;92718 | chr2:178542342;178542341;178542340 | chr2:179407069;179407068;179407067 |
| N2A | 29904 | 89935;89936;89937 | chr2:178542342;178542341;178542340 | chr2:179407069;179407068;179407067 |
| N2B | 23407 | 70444;70445;70446 | chr2:178542342;178542341;178542340 | chr2:179407069;179407068;179407067 |
| Novex-1 | 23532 | 70819;70820;70821 | chr2:178542342;178542341;178542340 | chr2:179407069;179407068;179407067 |
| Novex-2 | 23599 | 71020;71021;71022 | chr2:178542342;178542341;178542340 | chr2:179407069;179407068;179407067 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | None | None | 1.0 | D | 0.885 | 0.714 | 0.866212048144 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9949 | likely_pathogenic | 0.9914 | pathogenic | -1.872 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| F/C | 0.9606 | likely_pathogenic | 0.9211 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.553556537 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.851 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.611 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| F/G | 0.9977 | likely_pathogenic | 0.9962 | pathogenic | -2.305 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| F/H | 0.9977 | likely_pathogenic | 0.9954 | pathogenic | -1.933 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| F/I | 0.8791 | likely_pathogenic | 0.8407 | pathogenic | -0.447 | Destabilizing | 1.0 | D | 0.79 | deleterious | N | 0.509137912 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.539 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| F/L | 0.9842 | likely_pathogenic | 0.9786 | pathogenic | -0.447 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | N | 0.510405359 | None | None | N |
| F/M | 0.948 | likely_pathogenic | 0.9327 | pathogenic | -0.195 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| F/N | 0.9992 | likely_pathogenic | 0.9986 | pathogenic | -2.3 | Highly Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| F/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| F/Q | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -1.955 | Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | None | None | N |
| F/R | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -1.818 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| F/S | 0.9973 | likely_pathogenic | 0.9945 | pathogenic | -2.527 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.553556537 | None | None | N |
| F/T | 0.9971 | likely_pathogenic | 0.995 | pathogenic | -2.159 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| F/V | 0.8895 | likely_pathogenic | 0.8456 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.491675085 | None | None | N |
| F/W | 0.9541 | likely_pathogenic | 0.9358 | pathogenic | -0.172 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| F/Y | 0.8395 | likely_pathogenic | 0.7568 | pathogenic | -0.521 | Destabilizing | 0.999 | D | 0.583 | neutral | N | 0.519043094 | 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.