Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32409 | 97450;97451;97452 | chr2:178542531;178542530;178542529 | chr2:179407258;179407257;179407256 |
| N2AB | 30768 | 92527;92528;92529 | chr2:178542531;178542530;178542529 | chr2:179407258;179407257;179407256 |
| N2A | 29841 | 89746;89747;89748 | chr2:178542531;178542530;178542529 | chr2:179407258;179407257;179407256 |
| N2B | 23344 | 70255;70256;70257 | chr2:178542531;178542530;178542529 | chr2:179407258;179407257;179407256 |
| Novex-1 | 23469 | 70630;70631;70632 | chr2:178542531;178542530;178542529 | chr2:179407258;179407257;179407256 |
| Novex-2 | 23536 | 70831;70832;70833 | chr2:178542531;178542530;178542529 | chr2:179407258;179407257;179407256 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | None | None | 0.638 | D | 0.657 | 0.188 | 0.342631996419 | gnomAD-4.0.0 | 6.85825E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01723E-07 | 0 | 0 |
| I/T | rs772914223  |
-2.883 | 0.201 | N | 0.774 | 0.275 | 0.575446509224 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| I/T | rs772914223 |
-2.883 | 0.201 | N | 0.774 | 0.275 | 0.575446509224 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| I/T | rs772914223 |
-2.883 | 0.201 | N | 0.774 | 0.275 | 0.575446509224 | gnomAD-4.0.0 | 4.96967E-06 | None | None | None | None | N | None | 0 | 1.66845E-05 | None | 0 | 0 | None | 0 | 0 | 5.0995E-06 | 1.09934E-05 | 0 |
| I/V | None | None | 0.001 | N | 0.255 | 0.06 | 0.200317383148 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.2074 | likely_benign | 0.1883 | benign | -1.962 | Destabilizing | 0.25 | N | 0.645 | neutral | None | None | None | None | N |
| I/C | 0.5419 | ambiguous | 0.5525 | ambiguous | -1.433 | Destabilizing | 0.947 | D | 0.757 | deleterious | None | None | None | None | N |
| I/D | 0.7511 | likely_pathogenic | 0.7177 | pathogenic | -1.222 | Destabilizing | 0.826 | D | 0.829 | deleterious | None | None | None | None | N |
| I/E | 0.5684 | likely_pathogenic | 0.5446 | ambiguous | -1.125 | Destabilizing | 0.826 | D | 0.815 | deleterious | None | None | None | None | N |
| I/F | 0.1245 | likely_benign | 0.1218 | benign | -1.21 | Destabilizing | 0.638 | D | 0.67 | neutral | N | 0.424723279 | None | None | N |
| I/G | 0.6523 | likely_pathogenic | 0.6151 | pathogenic | -2.386 | Highly Destabilizing | 0.826 | D | 0.808 | deleterious | None | None | None | None | N |
| I/H | 0.5771 | likely_pathogenic | 0.5476 | ambiguous | -1.489 | Destabilizing | 0.982 | D | 0.813 | deleterious | None | None | None | None | N |
| I/K | 0.4144 | ambiguous | 0.3802 | ambiguous | -1.404 | Destabilizing | 0.826 | D | 0.815 | deleterious | None | None | None | None | N |
| I/L | 0.1247 | likely_benign | 0.1221 | benign | -0.821 | Destabilizing | 0.043 | N | 0.449 | neutral | N | 0.466455258 | None | None | N |
| I/M | 0.0725 | likely_benign | 0.0739 | benign | -0.76 | Destabilizing | 0.638 | D | 0.657 | neutral | D | 0.52429284 | None | None | N |
| I/N | 0.3644 | ambiguous | 0.3395 | benign | -1.429 | Destabilizing | 0.916 | D | 0.841 | deleterious | N | 0.494983676 | None | None | N |
| I/P | 0.546 | ambiguous | 0.4982 | ambiguous | -1.172 | Destabilizing | 0.935 | D | 0.835 | deleterious | None | None | None | None | N |
| I/Q | 0.4707 | ambiguous | 0.4445 | ambiguous | -1.45 | Destabilizing | 0.935 | D | 0.845 | deleterious | None | None | None | None | N |
| I/R | 0.3355 | likely_benign | 0.2994 | benign | -0.924 | Destabilizing | 0.826 | D | 0.846 | deleterious | None | None | None | None | N |
| I/S | 0.3059 | likely_benign | 0.2918 | benign | -2.182 | Highly Destabilizing | 0.638 | D | 0.775 | deleterious | N | 0.494223207 | None | None | N |
| I/T | 0.1183 | likely_benign | 0.1106 | benign | -1.939 | Destabilizing | 0.201 | N | 0.774 | deleterious | N | 0.480651629 | None | None | N |
| I/V | 0.0715 | likely_benign | 0.0708 | benign | -1.172 | Destabilizing | 0.001 | N | 0.255 | neutral | N | 0.411175191 | None | None | N |
| I/W | 0.6438 | likely_pathogenic | 0.5958 | pathogenic | -1.32 | Destabilizing | 0.982 | D | 0.762 | deleterious | None | None | None | None | N |
| I/Y | 0.4261 | ambiguous | 0.4189 | ambiguous | -1.087 | Destabilizing | 0.826 | D | 0.798 | 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.