Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32343 | 97252;97253;97254 | chr2:178542827;178542826;178542825 | chr2:179407554;179407553;179407552 |
| N2AB | 30702 | 92329;92330;92331 | chr2:178542827;178542826;178542825 | chr2:179407554;179407553;179407552 |
| N2A | 29775 | 89548;89549;89550 | chr2:178542827;178542826;178542825 | chr2:179407554;179407553;179407552 |
| N2B | 23278 | 70057;70058;70059 | chr2:178542827;178542826;178542825 | chr2:179407554;179407553;179407552 |
| Novex-1 | 23403 | 70432;70433;70434 | chr2:178542827;178542826;178542825 | chr2:179407554;179407553;179407552 |
| Novex-2 | 23470 | 70633;70634;70635 | chr2:178542827;178542826;178542825 | chr2:179407554;179407553;179407552 |
| 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/G | None | None | None | N | 0.125 | 0.095 | 0.132336055621 | gnomAD-4.0.0 | 1.59124E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85829E-06 | 0 | 0 |
| A/T | rs539206860  |
None | 0.062 | N | 0.243 | 0.032 | 0.107399877778 | 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/T | rs539206860 |
None | 0.062 | N | 0.243 | 0.032 | 0.107399877778 | gnomAD-4.0.0 | 2.56249E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78631E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.2779 | likely_benign | 0.2596 | benign | -0.897 | Destabilizing | 0.824 | D | 0.328 | neutral | None | None | None | None | N |
| A/D | 0.2154 | likely_benign | 0.1752 | benign | 0.073 | Stabilizing | 0.062 | N | 0.398 | neutral | N | 0.347880569 | None | None | N |
| A/E | 0.2046 | likely_benign | 0.1677 | benign | -0.04 | Destabilizing | 0.002 | N | 0.248 | neutral | None | None | None | None | N |
| A/F | 0.3305 | likely_benign | 0.2761 | benign | -0.659 | Destabilizing | 0.555 | D | 0.409 | neutral | None | None | None | None | N |
| A/G | 0.0749 | likely_benign | 0.0721 | benign | -0.298 | Destabilizing | None | N | 0.125 | neutral | N | 0.382073288 | None | None | N |
| A/H | 0.3139 | likely_benign | 0.2801 | benign | -0.138 | Destabilizing | 0.555 | D | 0.401 | neutral | None | None | None | None | N |
| A/I | 0.3945 | ambiguous | 0.3017 | benign | -0.247 | Destabilizing | 0.38 | N | 0.375 | neutral | None | None | None | None | N |
| A/K | 0.3205 | likely_benign | 0.2711 | benign | -0.462 | Destabilizing | 0.081 | N | 0.344 | neutral | None | None | None | None | N |
| A/L | 0.1628 | likely_benign | 0.1383 | benign | -0.247 | Destabilizing | 0.149 | N | 0.349 | neutral | None | None | None | None | N |
| A/M | 0.2334 | likely_benign | 0.1995 | benign | -0.564 | Destabilizing | 0.935 | D | 0.347 | neutral | None | None | None | None | N |
| A/N | 0.1635 | likely_benign | 0.1469 | benign | -0.296 | Destabilizing | 0.002 | N | 0.297 | neutral | None | None | None | None | N |
| A/P | 0.5636 | ambiguous | 0.396 | ambiguous | -0.212 | Destabilizing | 0.317 | N | 0.353 | neutral | N | 0.426077568 | None | None | N |
| A/Q | 0.2065 | likely_benign | 0.1871 | benign | -0.445 | Destabilizing | 0.38 | N | 0.353 | neutral | None | None | None | None | N |
| A/R | 0.2553 | likely_benign | 0.2241 | benign | -0.127 | Destabilizing | 0.38 | N | 0.344 | neutral | None | None | None | None | N |
| A/S | 0.0719 | likely_benign | 0.0691 | benign | -0.596 | Destabilizing | None | N | 0.131 | neutral | N | 0.448703711 | None | None | N |
| A/T | 0.1246 | likely_benign | 0.1007 | benign | -0.609 | Destabilizing | 0.062 | N | 0.243 | neutral | N | 0.479026618 | None | None | N |
| A/V | 0.1933 | likely_benign | 0.1495 | benign | -0.212 | Destabilizing | 0.117 | N | 0.308 | neutral | N | 0.454688321 | None | None | N |
| A/W | 0.6471 | likely_pathogenic | 0.5604 | ambiguous | -0.797 | Destabilizing | 0.935 | D | 0.503 | neutral | None | None | None | None | N |
| A/Y | 0.3638 | ambiguous | 0.3136 | benign | -0.464 | Destabilizing | 0.555 | D | 0.409 | 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.