Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1622 | 5089;5090;5091 | chr2:178777000;178776999;178776998 | chr2:179641727;179641726;179641725 |
| N2AB | 1622 | 5089;5090;5091 | chr2:178777000;178776999;178776998 | chr2:179641727;179641726;179641725 |
| N2A | 1622 | 5089;5090;5091 | chr2:178777000;178776999;178776998 | chr2:179641727;179641726;179641725 |
| N2B | 1576 | 4951;4952;4953 | chr2:178777000;178776999;178776998 | chr2:179641727;179641726;179641725 |
| Novex-1 | 1576 | 4951;4952;4953 | chr2:178777000;178776999;178776998 | chr2:179641727;179641726;179641725 |
| Novex-2 | 1576 | 4951;4952;4953 | chr2:178777000;178776999;178776998 | chr2:179641727;179641726;179641725 |
| Novex-3 | 1622 | 5089;5090;5091 | chr2:178777000;178776999;178776998 | chr2:179641727;179641726;179641725 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | None | None | 0.801 | N | 0.177 | 0.148 | 0.0954503805726 | gnomAD-4.0.0 | 1.59079E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| S/R | rs2092294772  |
None | 0.012 | N | 0.169 | 0.227 | 0.132336055621 | gnomAD-4.0.0 | 1.59079E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8566E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.076 | likely_benign | 0.0717 | benign | -0.54 | Destabilizing | 0.325 | N | 0.173 | neutral | None | None | None | None | N |
| S/C | 0.1438 | likely_benign | 0.12 | benign | -0.383 | Destabilizing | 0.997 | D | 0.269 | neutral | N | 0.443550503 | None | None | N |
| S/D | 0.3631 | ambiguous | 0.2962 | benign | -0.008 | Destabilizing | 0.842 | D | 0.159 | neutral | None | None | None | None | N |
| S/E | 0.3866 | ambiguous | 0.3096 | benign | -0.108 | Destabilizing | 0.525 | D | 0.143 | neutral | None | None | None | None | N |
| S/F | 0.2291 | likely_benign | 0.1839 | benign | -1.105 | Destabilizing | 0.991 | D | 0.296 | neutral | None | None | None | None | N |
| S/G | 0.0709 | likely_benign | 0.0695 | benign | -0.644 | Destabilizing | 0.002 | N | 0.083 | neutral | N | 0.438196772 | None | None | N |
| S/H | 0.2389 | likely_benign | 0.1926 | benign | -1.13 | Destabilizing | 0.974 | D | 0.234 | neutral | None | None | None | None | N |
| S/I | 0.1229 | likely_benign | 0.1042 | benign | -0.391 | Destabilizing | 0.966 | D | 0.309 | neutral | N | 0.442146171 | None | None | N |
| S/K | 0.3442 | ambiguous | 0.2622 | benign | -0.585 | Destabilizing | 0.525 | D | 0.167 | neutral | None | None | None | None | N |
| S/L | 0.1003 | likely_benign | 0.0855 | benign | -0.391 | Destabilizing | 0.842 | D | 0.263 | neutral | None | None | None | None | N |
| S/M | 0.1721 | likely_benign | 0.1505 | benign | -0.022 | Destabilizing | 0.991 | D | 0.236 | neutral | None | None | None | None | N |
| S/N | 0.1105 | likely_benign | 0.0994 | benign | -0.3 | Destabilizing | 0.801 | D | 0.177 | neutral | N | 0.451340626 | None | None | N |
| S/P | 0.1423 | likely_benign | 0.1151 | benign | -0.413 | Destabilizing | 0.991 | D | 0.253 | neutral | None | None | None | None | N |
| S/Q | 0.2886 | likely_benign | 0.2329 | benign | -0.618 | Destabilizing | 0.172 | N | 0.159 | neutral | None | None | None | None | N |
| S/R | 0.3013 | likely_benign | 0.2267 | benign | -0.317 | Destabilizing | 0.012 | N | 0.169 | neutral | N | 0.384904798 | None | None | N |
| S/T | 0.0864 | likely_benign | 0.0798 | benign | -0.448 | Destabilizing | 0.891 | D | 0.167 | neutral | N | 0.441375825 | None | None | N |
| S/V | 0.1479 | likely_benign | 0.1274 | benign | -0.413 | Destabilizing | 0.915 | D | 0.289 | neutral | None | None | None | None | N |
| S/W | 0.3846 | ambiguous | 0.3129 | benign | -1.053 | Destabilizing | 0.998 | D | 0.362 | neutral | None | None | None | None | N |
| S/Y | 0.2072 | likely_benign | 0.1661 | benign | -0.806 | Destabilizing | 0.991 | D | 0.296 | neutral | 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.