Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14789 | 44590;44591;44592 | chr2:178629360;178629359;178629358 | chr2:179494087;179494086;179494085 |
| N2AB | 13148 | 39667;39668;39669 | chr2:178629360;178629359;178629358 | chr2:179494087;179494086;179494085 |
| N2A | 12221 | 36886;36887;36888 | chr2:178629360;178629359;178629358 | chr2:179494087;179494086;179494085 |
| N2B | 5724 | 17395;17396;17397 | chr2:178629360;178629359;178629358 | chr2:179494087;179494086;179494085 |
| Novex-1 | 5849 | 17770;17771;17772 | chr2:178629360;178629359;178629358 | chr2:179494087;179494086;179494085 |
| Novex-2 | 5916 | 17971;17972;17973 | chr2:178629360;178629359;178629358 | chr2:179494087;179494086;179494085 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs397517577  |
-0.099 | 1.0 | N | 0.607 | 0.421 | 0.459192005304 | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.30753E-04 | None | 0 | 2.35E-05 | 0 |
| Y/C | rs397517577 |
-0.099 | 1.0 | N | 0.607 | 0.421 | 0.459192005304 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| Y/C | rs397517577 |
-0.099 | 1.0 | N | 0.607 | 0.421 | 0.459192005304 | gnomAD-4.0.0 | 3.47208E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.22217E-05 | 1.64727E-04 | 4.80723E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.7757 | likely_pathogenic | 0.8473 | pathogenic | -1.237 | Destabilizing | 0.998 | D | 0.524 | neutral | None | None | None | None | N |
| Y/C | 0.3018 | likely_benign | 0.4132 | ambiguous | -0.25 | Destabilizing | 1.0 | D | 0.607 | neutral | N | 0.507134781 | None | None | N |
| Y/D | 0.6641 | likely_pathogenic | 0.8213 | pathogenic | 0.256 | Stabilizing | 1.0 | D | 0.648 | neutral | N | 0.470273439 | None | None | N |
| Y/E | 0.8722 | likely_pathogenic | 0.9327 | pathogenic | 0.284 | Stabilizing | 1.0 | D | 0.584 | neutral | None | None | None | None | N |
| Y/F | 0.1398 | likely_benign | 0.1559 | benign | -0.502 | Destabilizing | 0.434 | N | 0.308 | neutral | N | 0.508477382 | None | None | N |
| Y/G | 0.7572 | likely_pathogenic | 0.8158 | pathogenic | -1.479 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| Y/H | 0.3777 | ambiguous | 0.4934 | ambiguous | -0.127 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.426385046 | None | None | N |
| Y/I | 0.7883 | likely_pathogenic | 0.8364 | pathogenic | -0.566 | Destabilizing | 0.999 | D | 0.592 | neutral | None | None | None | None | N |
| Y/K | 0.8832 | likely_pathogenic | 0.9152 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.583 | neutral | None | None | None | None | N |
| Y/L | 0.7087 | likely_pathogenic | 0.7373 | pathogenic | -0.566 | Destabilizing | 0.994 | D | 0.537 | neutral | None | None | None | None | N |
| Y/M | 0.8191 | likely_pathogenic | 0.8521 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.577 | neutral | None | None | None | None | N |
| Y/N | 0.5158 | ambiguous | 0.6684 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.595 | neutral | N | 0.499624497 | None | None | N |
| Y/P | 0.966 | likely_pathogenic | 0.9733 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| Y/Q | 0.8145 | likely_pathogenic | 0.8783 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.593 | neutral | None | None | None | None | N |
| Y/R | 0.7177 | likely_pathogenic | 0.7616 | pathogenic | -0.055 | Destabilizing | 1.0 | D | 0.595 | neutral | None | None | None | None | N |
| Y/S | 0.4558 | ambiguous | 0.5964 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.59 | neutral | N | 0.483666945 | None | None | N |
| Y/T | 0.7568 | likely_pathogenic | 0.835 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.592 | neutral | None | None | None | None | N |
| Y/V | 0.6517 | likely_pathogenic | 0.7004 | pathogenic | -0.776 | Destabilizing | 0.997 | D | 0.552 | neutral | None | None | None | None | N |
| Y/W | 0.456 | ambiguous | 0.4947 | ambiguous | -0.429 | Destabilizing | 1.0 | D | 0.66 | 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.