Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4814 | 14665;14666;14667 | chr2:178736006;178736005;178736004 | chr2:179600733;179600732;179600731 |
| N2AB | 4497 | 13714;13715;13716 | chr2:178736006;178736005;178736004 | chr2:179600733;179600732;179600731 |
| N2A | 3570 | 10933;10934;10935 | chr2:178736006;178736005;178736004 | chr2:179600733;179600732;179600731 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/C | rs2081380830  |
None | 1.0 | D | 0.857 | 0.871 | 0.90976562344 | gnomAD-4.0.0 | 1.36904E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79965E-06 | 0 | 0 |
| F/S | None | None | 0.999 | D | 0.809 | 0.865 | 0.903915487384 | gnomAD-4.0.0 | 6.84519E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99823E-07 | 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 | 0.9784 | likely_pathogenic | 0.9887 | pathogenic | -2.193 | Highly Destabilizing | 0.993 | D | 0.76 | deleterious | None | None | None | None | N |
| F/C | 0.9165 | likely_pathogenic | 0.956 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.754402493 | None | None | N |
| F/D | 0.9964 | likely_pathogenic | 0.9987 | pathogenic | -3.241 | Highly Destabilizing | 0.999 | D | 0.877 | deleterious | None | None | None | None | N |
| F/E | 0.996 | likely_pathogenic | 0.9983 | pathogenic | -2.996 | Highly Destabilizing | 0.999 | D | 0.872 | deleterious | None | None | None | None | N |
| F/G | 0.9867 | likely_pathogenic | 0.9934 | pathogenic | -2.64 | Highly Destabilizing | 0.999 | D | 0.835 | deleterious | None | None | None | None | N |
| F/H | 0.9795 | likely_pathogenic | 0.9888 | pathogenic | -2.002 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| F/I | 0.5537 | ambiguous | 0.6684 | pathogenic | -0.717 | Destabilizing | 0.4 | N | 0.394 | neutral | D | 0.53432784 | None | None | N |
| F/K | 0.9961 | likely_pathogenic | 0.9982 | pathogenic | -1.952 | Destabilizing | 0.999 | D | 0.865 | deleterious | None | None | None | None | N |
| F/L | 0.9085 | likely_pathogenic | 0.9353 | pathogenic | -0.717 | Destabilizing | 0.061 | N | 0.289 | neutral | N | 0.394157815 | None | None | N |
| F/M | 0.7613 | likely_pathogenic | 0.8114 | pathogenic | -0.485 | Destabilizing | 0.996 | D | 0.686 | prob.neutral | None | None | None | None | N |
| F/N | 0.9848 | likely_pathogenic | 0.9931 | pathogenic | -2.704 | Highly Destabilizing | 0.999 | D | 0.881 | deleterious | None | None | None | None | N |
| F/P | 0.9996 | likely_pathogenic | 0.9999 | pathogenic | -1.224 | Destabilizing | 0.999 | D | 0.877 | deleterious | None | None | None | None | N |
| F/Q | 0.9935 | likely_pathogenic | 0.9968 | pathogenic | -2.413 | Highly Destabilizing | 0.999 | D | 0.887 | deleterious | None | None | None | None | N |
| F/R | 0.9916 | likely_pathogenic | 0.996 | pathogenic | -2.043 | Highly Destabilizing | 0.999 | D | 0.881 | deleterious | None | None | None | None | N |
| F/S | 0.9851 | likely_pathogenic | 0.9933 | pathogenic | -3.025 | Highly Destabilizing | 0.999 | D | 0.809 | deleterious | D | 0.754402493 | None | None | N |
| F/T | 0.9869 | likely_pathogenic | 0.9932 | pathogenic | -2.651 | Highly Destabilizing | 0.998 | D | 0.789 | deleterious | None | None | None | None | N |
| F/V | 0.724 | likely_pathogenic | 0.814 | pathogenic | -1.224 | Destabilizing | 0.911 | D | 0.71 | prob.delet. | D | 0.623613411 | None | None | N |
| F/W | 0.8597 | likely_pathogenic | 0.91 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| F/Y | 0.4503 | ambiguous | 0.5105 | ambiguous | -0.673 | Destabilizing | 0.997 | D | 0.62 | neutral | D | 0.717281026 | 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.