Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8039 | 24340;24341;24342 | chr2:178719275;178719274;178719273 | chr2:179584002;179584001;179584000 |
| N2AB | 7722 | 23389;23390;23391 | chr2:178719275;178719274;178719273 | chr2:179584002;179584001;179584000 |
| N2A | 6795 | 20608;20609;20610 | chr2:178719275;178719274;178719273 | chr2:179584002;179584001;179584000 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs759655046  |
-0.59 | 0.009 | N | 0.142 | 0.063 | 0.535679682109 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 2.34E-05 | 0 |
| V/I | rs759655046 |
-0.59 | 0.009 | N | 0.142 | 0.063 | 0.535679682109 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 2.07297E-04 | 4.77555E-04 |
| V/I | rs759655046 |
-0.59 | 0.009 | N | 0.142 | 0.063 | 0.535679682109 | gnomAD-4.0.0 | 2.41675E-05 | None | None | None | None | N | None | 0 | 1.66667E-05 | None | 0 | 0 | None | 0 | 0 | 2.20389E-05 | 1.20778E-04 | 1.60046E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1519 | likely_benign | 0.1538 | benign | -1.637 | Destabilizing | 0.334 | N | 0.443 | neutral | D | 0.53457691 | None | None | N |
| V/C | 0.6163 | likely_pathogenic | 0.6338 | pathogenic | -1.249 | Destabilizing | 0.992 | D | 0.527 | neutral | None | None | None | None | N |
| V/D | 0.263 | likely_benign | 0.2646 | benign | -1.988 | Destabilizing | 0.896 | D | 0.639 | neutral | N | 0.503427284 | None | None | N |
| V/E | 0.2224 | likely_benign | 0.2352 | benign | -1.971 | Destabilizing | 0.92 | D | 0.609 | neutral | None | None | None | None | N |
| V/F | 0.1242 | likely_benign | 0.124 | benign | -1.346 | Destabilizing | 0.916 | D | 0.565 | neutral | N | 0.519532886 | None | None | N |
| V/G | 0.1983 | likely_benign | 0.2018 | benign | -1.966 | Destabilizing | 0.896 | D | 0.627 | neutral | N | 0.472240372 | None | None | N |
| V/H | 0.354 | ambiguous | 0.3752 | ambiguous | -1.539 | Destabilizing | 0.992 | D | 0.625 | neutral | None | None | None | None | N |
| V/I | 0.0659 | likely_benign | 0.0661 | benign | -0.813 | Destabilizing | 0.009 | N | 0.142 | neutral | N | 0.462946098 | None | None | N |
| V/K | 0.2351 | likely_benign | 0.2417 | benign | -1.244 | Destabilizing | 0.85 | D | 0.609 | neutral | None | None | None | None | N |
| V/L | 0.1419 | likely_benign | 0.1466 | benign | -0.813 | Destabilizing | 0.004 | N | 0.156 | neutral | N | 0.468026631 | None | None | N |
| V/M | 0.1016 | likely_benign | 0.1093 | benign | -0.669 | Destabilizing | 0.85 | D | 0.487 | neutral | None | None | None | None | N |
| V/N | 0.1764 | likely_benign | 0.1822 | benign | -1.146 | Destabilizing | 0.92 | D | 0.642 | neutral | None | None | None | None | N |
| V/P | 0.8738 | likely_pathogenic | 0.8852 | pathogenic | -1.055 | Destabilizing | 0.972 | D | 0.621 | neutral | None | None | None | None | N |
| V/Q | 0.2445 | likely_benign | 0.2493 | benign | -1.342 | Destabilizing | 0.972 | D | 0.625 | neutral | None | None | None | None | N |
| V/R | 0.2027 | likely_benign | 0.1975 | benign | -0.756 | Destabilizing | 0.92 | D | 0.656 | neutral | None | None | None | None | N |
| V/S | 0.1561 | likely_benign | 0.156 | benign | -1.643 | Destabilizing | 0.447 | N | 0.593 | neutral | None | None | None | None | N |
| V/T | 0.1182 | likely_benign | 0.1208 | benign | -1.521 | Destabilizing | 0.021 | N | 0.291 | neutral | None | None | None | None | N |
| V/W | 0.6379 | likely_pathogenic | 0.6685 | pathogenic | -1.581 | Destabilizing | 0.992 | D | 0.676 | prob.neutral | None | None | None | None | N |
| V/Y | 0.3561 | ambiguous | 0.3706 | ambiguous | -1.265 | Destabilizing | 0.92 | D | 0.563 | 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.