Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6045 | 18358;18359;18360 | chr2:178730267;178730266;178730265 | chr2:179594994;179594993;179594992 |
| N2AB | 5728 | 17407;17408;17409 | chr2:178730267;178730266;178730265 | chr2:179594994;179594993;179594992 |
| N2A | 4801 | 14626;14627;14628 | chr2:178730267;178730266;178730265 | chr2:179594994;179594993;179594992 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs1463290209  |
-1.263 | 1.0 | D | 0.777 | 0.906 | 0.756221128592 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.67001E-04 |
| W/C | rs1463290209 |
-1.263 | 1.0 | D | 0.777 | 0.906 | 0.756221128592 | gnomAD-4.0.0 | 6.84509E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99659E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9933 | likely_pathogenic | 0.9945 | pathogenic | -3.034 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/C | 0.9957 | likely_pathogenic | 0.996 | pathogenic | -1.577 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.700279476 | None | None | N |
| W/D | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -3.62 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| W/E | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -3.498 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| W/F | 0.6485 | likely_pathogenic | 0.6675 | pathogenic | -1.937 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| W/G | 0.9755 | likely_pathogenic | 0.9798 | pathogenic | -3.276 | Highly Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.700077672 | None | None | N |
| W/H | 0.9957 | likely_pathogenic | 0.9961 | pathogenic | -2.459 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| W/I | 0.9463 | likely_pathogenic | 0.9521 | pathogenic | -2.102 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.622 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| W/L | 0.9121 | likely_pathogenic | 0.9178 | pathogenic | -2.102 | Highly Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.700077672 | None | None | N |
| W/M | 0.9827 | likely_pathogenic | 0.9847 | pathogenic | -1.499 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| W/N | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -3.395 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/P | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -2.443 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/Q | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -3.182 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/R | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.469 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.700279476 | None | None | N |
| W/S | 0.9922 | likely_pathogenic | 0.9935 | pathogenic | -3.451 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.700279476 | None | None | N |
| W/T | 0.9921 | likely_pathogenic | 0.9935 | pathogenic | -3.252 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| W/V | 0.9608 | likely_pathogenic | 0.9658 | pathogenic | -2.443 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| W/Y | 0.8444 | likely_pathogenic | 0.8507 | pathogenic | -1.807 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | 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.