Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25 | 298;299;300 | chr2:178804570;178804569;178804568 | chr2:179669297;179669296;179669295 |
| N2AB | 25 | 298;299;300 | chr2:178804570;178804569;178804568 | chr2:179669297;179669296;179669295 |
| N2A | 25 | 298;299;300 | chr2:178804570;178804569;178804568 | chr2:179669297;179669296;179669295 |
| N2B | 25 | 298;299;300 | chr2:178804570;178804569;178804568 | chr2:179669297;179669296;179669295 |
| Novex-1 | 25 | 298;299;300 | chr2:178804570;178804569;178804568 | chr2:179669297;179669296;179669295 |
| Novex-2 | 25 | 298;299;300 | chr2:178804570;178804569;178804568 | chr2:179669297;179669296;179669295 |
| Novex-3 | 25 | 298;299;300 | chr2:178804570;178804569;178804568 | chr2:179669297;179669296;179669295 |
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/V | None | None | 1.0 | D | 0.767 | 0.689 | 0.822178749166 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | -0.667(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 3.66327E-05 |
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 | 0.9761 | likely_pathogenic | 0.9822 | pathogenic | -1.842 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | -0.455(TCAP) | N |
| F/C | 0.9698 | likely_pathogenic | 0.9775 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.784293222 | None | -0.559(TCAP) | N |
| F/D | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.512 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | -0.837(TCAP) | N |
| F/E | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -2.248 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | -0.89(TCAP) | N |
| F/G | 0.994 | likely_pathogenic | 0.9953 | pathogenic | -2.325 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | -0.36(TCAP) | N |
| F/H | 0.9934 | likely_pathogenic | 0.9943 | pathogenic | -1.586 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | -0.407(TCAP) | N |
| F/I | 0.7167 | likely_pathogenic | 0.7394 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.53550924 | None | -0.779(TCAP) | N |
| F/K | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -1.485 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | -0.604(TCAP) | N |
| F/L | 0.9278 | likely_pathogenic | 0.9335 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | N | 0.42725332 | None | -0.779(TCAP) | N |
| F/M | 0.8416 | likely_pathogenic | 0.8544 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | -0.792(TCAP) | N |
| F/N | 0.9978 | likely_pathogenic | 0.9984 | pathogenic | -2.168 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | -0.872(TCAP) | N |
| F/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | -0.667(TCAP) | N |
| F/Q | 0.9973 | likely_pathogenic | 0.9977 | pathogenic | -1.848 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | -0.875(TCAP) | N |
| F/R | 0.9959 | likely_pathogenic | 0.9965 | pathogenic | -1.65 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | -0.821(TCAP) | N |
| F/S | 0.9908 | likely_pathogenic | 0.9935 | pathogenic | -2.651 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.784293222 | None | -0.376(TCAP) | N |
| F/T | 0.987 | likely_pathogenic | 0.9902 | pathogenic | -2.251 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | -0.455(TCAP) | N |
| F/V | 0.7318 | likely_pathogenic | 0.7678 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.620138969 | None | -0.667(TCAP) | N |
| F/W | 0.9175 | likely_pathogenic | 0.9187 | pathogenic | 0.274 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | -1.743(TCAP) | N |
| F/Y | 0.6883 | likely_pathogenic | 0.7178 | pathogenic | -0.088 | Destabilizing | 1.0 | D | 0.612 | neutral | D | 0.726032569 | None | -1.265(TCAP) | 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.