Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1009 | 3250;3251;3252 | chr2:178782881;178782880;178782879 | chr2:179647608;179647607;179647606 |
| N2AB | 1009 | 3250;3251;3252 | chr2:178782881;178782880;178782879 | chr2:179647608;179647607;179647606 |
| N2A | 1009 | 3250;3251;3252 | chr2:178782881;178782880;178782879 | chr2:179647608;179647607;179647606 |
| N2B | 963 | 3112;3113;3114 | chr2:178782881;178782880;178782879 | chr2:179647608;179647607;179647606 |
| Novex-1 | 963 | 3112;3113;3114 | chr2:178782881;178782880;178782879 | chr2:179647608;179647607;179647606 |
| Novex-2 | 963 | 3112;3113;3114 | chr2:178782881;178782880;178782879 | chr2:179647608;179647607;179647606 |
| Novex-3 | 1009 | 3250;3251;3252 | chr2:178782881;178782880;178782879 | chr2:179647608;179647607;179647606 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs794729523  |
None | 1.0 | D | 0.583 | 0.529 | 0.669326051152 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| D/E | rs794729523 |
None | 1.0 | D | 0.583 | 0.529 | 0.669326051152 | gnomAD-4.0.0 | 7.43529E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47472E-06 | 0 | 3.20123E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.999 | likely_pathogenic | 0.9988 | pathogenic | 0.845 | Stabilizing | 1.0 | D | 0.837 | deleterious | D | 0.760687802 | None | None | N |
| D/C | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | 0.644 | Stabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| D/E | 0.9966 | likely_pathogenic | 0.9958 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.583 | neutral | D | 0.750349075 | None | None | N |
| D/F | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | 1.635 | Stabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| D/G | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | 0.382 | Stabilizing | 1.0 | D | 0.771 | deleterious | D | 0.827701928 | None | None | N |
| D/H | 0.998 | likely_pathogenic | 0.9978 | pathogenic | 1.378 | Stabilizing | 1.0 | D | 0.841 | deleterious | D | 0.637122085 | None | None | N |
| D/I | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | 2.086 | Highly Stabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| D/K | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | 0.897 | Stabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| D/L | 0.9991 | likely_pathogenic | 0.999 | pathogenic | 2.086 | Highly Stabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| D/M | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | 2.25 | Highly Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/N | 0.9877 | likely_pathogenic | 0.9863 | pathogenic | -0.037 | Destabilizing | 1.0 | D | 0.76 | deleterious | D | 0.699831694 | None | None | N |
| D/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | 1.704 | Stabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| D/Q | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | 0.308 | Stabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| D/R | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | 0.847 | Stabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| D/S | 0.9981 | likely_pathogenic | 0.9978 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| D/T | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | 0.148 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/V | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | 1.704 | Stabilizing | 1.0 | D | 0.85 | deleterious | D | 0.827659401 | None | None | N |
| D/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | 1.708 | Stabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| D/Y | 0.9936 | likely_pathogenic | 0.993 | pathogenic | 1.97 | Stabilizing | 1.0 | D | 0.866 | deleterious | D | 0.748588522 | 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.