Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17297 | 52114;52115;52116 | chr2:178609421;178609420;178609419 | chr2:179474148;179474147;179474146 |
| N2AB | 15656 | 47191;47192;47193 | chr2:178609421;178609420;178609419 | chr2:179474148;179474147;179474146 |
| N2A | 14729 | 44410;44411;44412 | chr2:178609421;178609420;178609419 | chr2:179474148;179474147;179474146 |
| N2B | 8232 | 24919;24920;24921 | chr2:178609421;178609420;178609419 | chr2:179474148;179474147;179474146 |
| Novex-1 | 8357 | 25294;25295;25296 | chr2:178609421;178609420;178609419 | chr2:179474148;179474147;179474146 |
| Novex-2 | 8424 | 25495;25496;25497 | chr2:178609421;178609420;178609419 | chr2:179474148;179474147;179474146 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | None | None | None | N | 0.288 | 0.106 | 0.0716867268079 | gnomAD-4.0.0 | 6.84822E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00004E-07 | 0 | 0 |
| A/G | rs776392928  |
None | 0.014 | N | 0.333 | 0.041 | 0.0551355673512 | gnomAD-4.0.0 | 6.84822E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00004E-07 | 0 | 0 |
| A/T | None | None | None | N | 0.253 | 0.096 | 0.0716867268079 | gnomAD-4.0.0 | 1.36965E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99998E-07 | 0 | 1.65915E-05 |
| A/V | rs776392928 |
-0.205 | None | N | 0.213 | 0.082 | 0.0666544352282 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| A/V | rs776392928 |
-0.205 | None | N | 0.213 | 0.082 | 0.0666544352282 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs776392928 |
-0.205 | None | N | 0.213 | 0.082 | 0.0666544352282 | gnomAD-4.0.0 | 2.10903E-05 | None | None | None | None | N | None | 1.33686E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.79895E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3375 | likely_benign | 0.3524 | ambiguous | -0.982 | Destabilizing | 0.245 | N | 0.449 | neutral | None | None | None | None | N |
| A/D | 0.1793 | likely_benign | 0.1589 | benign | -0.669 | Destabilizing | 0.009 | N | 0.41 | neutral | None | None | None | None | N |
| A/E | 0.1299 | likely_benign | 0.1133 | benign | -0.798 | Destabilizing | None | N | 0.288 | neutral | N | 0.42632915 | None | None | N |
| A/F | 0.2113 | likely_benign | 0.2039 | benign | -1.079 | Destabilizing | 0.138 | N | 0.625 | neutral | None | None | None | None | N |
| A/G | 0.1072 | likely_benign | 0.1042 | benign | -0.423 | Destabilizing | 0.014 | N | 0.333 | neutral | N | 0.425809075 | None | None | N |
| A/H | 0.2688 | likely_benign | 0.2518 | benign | -0.356 | Destabilizing | 0.245 | N | 0.559 | neutral | None | None | None | None | N |
| A/I | 0.1273 | likely_benign | 0.1196 | benign | -0.631 | Destabilizing | 0.003 | N | 0.413 | neutral | None | None | None | None | N |
| A/K | 0.2104 | likely_benign | 0.1792 | benign | -0.699 | Destabilizing | 0.009 | N | 0.413 | neutral | None | None | None | None | N |
| A/L | 0.1054 | likely_benign | 0.1041 | benign | -0.631 | Destabilizing | 0.004 | N | 0.366 | neutral | None | None | None | None | N |
| A/M | 0.1428 | likely_benign | 0.1403 | benign | -0.862 | Destabilizing | 0.138 | N | 0.503 | neutral | None | None | None | None | N |
| A/N | 0.1511 | likely_benign | 0.1397 | benign | -0.407 | Destabilizing | 0.044 | N | 0.555 | neutral | None | None | None | None | N |
| A/P | 0.0685 | likely_benign | 0.0689 | benign | -0.547 | Destabilizing | None | N | 0.286 | neutral | N | 0.339422241 | None | None | N |
| A/Q | 0.1644 | likely_benign | 0.152 | benign | -0.627 | Destabilizing | 0.022 | N | 0.483 | neutral | None | None | None | None | N |
| A/R | 0.2083 | likely_benign | 0.1847 | benign | -0.319 | Destabilizing | 0.044 | N | 0.501 | neutral | None | None | None | None | N |
| A/S | 0.0901 | likely_benign | 0.0881 | benign | -0.601 | Destabilizing | 0.003 | N | 0.319 | neutral | N | 0.425982433 | None | None | N |
| A/T | 0.0784 | likely_benign | 0.0738 | benign | -0.666 | Destabilizing | None | N | 0.253 | neutral | N | 0.407743389 | None | None | N |
| A/V | 0.0783 | likely_benign | 0.0744 | benign | -0.547 | Destabilizing | None | N | 0.213 | neutral | N | 0.388464195 | None | None | N |
| A/W | 0.4769 | ambiguous | 0.4656 | ambiguous | -1.137 | Destabilizing | 0.788 | D | 0.585 | neutral | None | None | None | None | N |
| A/Y | 0.279 | likely_benign | 0.269 | benign | -0.883 | Destabilizing | 0.245 | N | 0.625 | 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.