Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5292 | 16099;16100;16101 | chr2:178733419;178733418;178733417 | chr2:179598146;179598145;179598144 |
| N2AB | 4975 | 15148;15149;15150 | chr2:178733419;178733418;178733417 | chr2:179598146;179598145;179598144 |
| N2A | 4048 | 12367;12368;12369 | chr2:178733419;178733418;178733417 | chr2:179598146;179598145;179598144 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1394563400  |
0.378 | 0.019 | N | 0.642 | 0.187 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| P/L | rs1394563400 |
0.378 | 0.019 | N | 0.642 | 0.187 | None | gnomAD-4.0.0 | 5.47363E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29628E-06 | 0 | 1.65656E-05 |
| P/S | None | None | 0.042 | N | 0.528 | 0.198 | 0.178374595973 | gnomAD-4.0.0 | 6.84208E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99465E-07 | 0 | 0 |
| P/T | None | None | None | N | 0.389 | 0.124 | 0.253205268125 | gnomAD-4.0.0 | 6.84208E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51978E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0777 | likely_benign | 0.1147 | benign | -1.638 | Destabilizing | None | N | 0.389 | neutral | N | 0.398618357 | None | None | N |
| P/C | 0.4295 | ambiguous | 0.6181 | pathogenic | -0.957 | Destabilizing | 0.667 | D | 0.761 | deleterious | None | None | None | None | N |
| P/D | 0.8295 | likely_pathogenic | 0.9106 | pathogenic | -1.887 | Destabilizing | 0.22 | N | 0.591 | neutral | None | None | None | None | N |
| P/E | 0.5942 | likely_pathogenic | 0.7476 | pathogenic | -1.719 | Destabilizing | 0.22 | N | 0.563 | neutral | None | None | None | None | N |
| P/F | 0.6664 | likely_pathogenic | 0.8463 | pathogenic | -1.029 | Destabilizing | 0.667 | D | 0.737 | prob.delet. | None | None | None | None | N |
| P/G | 0.3763 | ambiguous | 0.5163 | ambiguous | -2.08 | Highly Destabilizing | 0.055 | N | 0.651 | neutral | None | None | None | None | N |
| P/H | 0.4403 | ambiguous | 0.6426 | pathogenic | -1.578 | Destabilizing | 0.822 | D | 0.747 | deleterious | N | 0.504899869 | None | None | N |
| P/I | 0.2903 | likely_benign | 0.4224 | ambiguous | -0.439 | Destabilizing | 0.055 | N | 0.646 | neutral | None | None | None | None | N |
| P/K | 0.6445 | likely_pathogenic | 0.8111 | pathogenic | -1.279 | Destabilizing | 0.22 | N | 0.563 | neutral | None | None | None | None | N |
| P/L | 0.1473 | likely_benign | 0.2767 | benign | -0.439 | Destabilizing | 0.019 | N | 0.642 | neutral | N | 0.426849601 | None | None | N |
| P/M | 0.3211 | likely_benign | 0.4826 | ambiguous | -0.393 | Destabilizing | 0.667 | D | 0.754 | deleterious | None | None | None | None | N |
| P/N | 0.5782 | likely_pathogenic | 0.751 | pathogenic | -1.462 | Destabilizing | 0.22 | N | 0.703 | prob.neutral | None | None | None | None | N |
| P/Q | 0.3439 | ambiguous | 0.5415 | ambiguous | -1.399 | Destabilizing | 0.667 | D | 0.665 | neutral | None | None | None | None | N |
| P/R | 0.5126 | ambiguous | 0.7144 | pathogenic | -1.042 | Destabilizing | 0.175 | N | 0.723 | prob.delet. | N | 0.509838353 | None | None | N |
| P/S | 0.1858 | likely_benign | 0.3096 | benign | -2.025 | Highly Destabilizing | 0.042 | N | 0.528 | neutral | N | 0.440304439 | None | None | N |
| P/T | 0.0986 | likely_benign | 0.1652 | benign | -1.721 | Destabilizing | None | N | 0.389 | neutral | N | 0.385301123 | None | None | N |
| P/V | 0.172 | likely_benign | 0.2565 | benign | -0.811 | Destabilizing | None | N | 0.462 | neutral | None | None | None | None | N |
| P/W | 0.7925 | likely_pathogenic | 0.9049 | pathogenic | -1.401 | Destabilizing | 0.958 | D | 0.745 | deleterious | None | None | None | None | N |
| P/Y | 0.6027 | likely_pathogenic | 0.7816 | pathogenic | -0.994 | Destabilizing | 0.667 | D | 0.75 | 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.