Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31552 | 94879;94880;94881 | chr2:178546774;178546773;178546772 | chr2:179411501;179411500;179411499 |
| N2AB | 29911 | 89956;89957;89958 | chr2:178546774;178546773;178546772 | chr2:179411501;179411500;179411499 |
| N2A | 28984 | 87175;87176;87177 | chr2:178546774;178546773;178546772 | chr2:179411501;179411500;179411499 |
| N2B | 22487 | 67684;67685;67686 | chr2:178546774;178546773;178546772 | chr2:179411501;179411500;179411499 |
| Novex-1 | 22612 | 68059;68060;68061 | chr2:178546774;178546773;178546772 | chr2:179411501;179411500;179411499 |
| Novex-2 | 22679 | 68260;68261;68262 | chr2:178546774;178546773;178546772 | chr2:179411501;179411500;179411499 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 0.978 | N | 0.377 | 0.303 | 0.225902525712 | gnomAD-4.0.0 | 1.5913E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| G/R | rs1219078324  |
-0.234 | 0.994 | N | 0.578 | 0.395 | 0.629401724697 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1219078324 |
-0.234 | 0.994 | N | 0.578 | 0.395 | 0.629401724697 | gnomAD-4.0.0 | 3.18267E-06 | None | None | None | None | N | None | 0 | 4.57331E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1225 | likely_benign | 0.1138 | benign | -0.355 | Destabilizing | 0.978 | D | 0.377 | neutral | N | 0.521828538 | None | None | N |
| G/C | 0.2262 | likely_benign | 0.2065 | benign | -1.018 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/D | 0.2376 | likely_benign | 0.2093 | benign | -0.588 | Destabilizing | 0.967 | D | 0.366 | neutral | None | None | None | None | N |
| G/E | 0.2323 | likely_benign | 0.2061 | benign | -0.738 | Destabilizing | 0.37 | N | 0.327 | neutral | N | 0.485713022 | None | None | N |
| G/F | 0.5962 | likely_pathogenic | 0.5312 | ambiguous | -1.092 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| G/H | 0.4311 | ambiguous | 0.377 | ambiguous | -0.432 | Destabilizing | 1.0 | D | 0.6 | neutral | None | None | None | None | N |
| G/I | 0.3055 | likely_benign | 0.2631 | benign | -0.61 | Destabilizing | 0.999 | D | 0.659 | neutral | None | None | None | None | N |
| G/K | 0.4777 | ambiguous | 0.4081 | ambiguous | -0.699 | Destabilizing | 0.983 | D | 0.466 | neutral | None | None | None | None | N |
| G/L | 0.4041 | ambiguous | 0.3496 | ambiguous | -0.61 | Destabilizing | 0.998 | D | 0.665 | neutral | None | None | None | None | N |
| G/M | 0.4557 | ambiguous | 0.4067 | ambiguous | -0.744 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| G/N | 0.2692 | likely_benign | 0.2392 | benign | -0.421 | Destabilizing | 0.998 | D | 0.349 | neutral | None | None | None | None | N |
| G/P | 0.5971 | likely_pathogenic | 0.5187 | ambiguous | -0.502 | Destabilizing | 0.296 | N | 0.306 | neutral | None | None | None | None | N |
| G/Q | 0.3462 | ambiguous | 0.3043 | benign | -0.664 | Destabilizing | 0.995 | D | 0.57 | neutral | None | None | None | None | N |
| G/R | 0.337 | likely_benign | 0.2916 | benign | -0.318 | Destabilizing | 0.994 | D | 0.578 | neutral | N | 0.473926452 | None | None | N |
| G/S | 0.0971 | likely_benign | 0.0947 | benign | -0.572 | Destabilizing | 0.983 | D | 0.358 | neutral | None | None | None | None | N |
| G/T | 0.1444 | likely_benign | 0.1343 | benign | -0.658 | Destabilizing | 0.998 | D | 0.503 | neutral | None | None | None | None | N |
| G/V | 0.1936 | likely_benign | 0.1728 | benign | -0.502 | Destabilizing | 0.997 | D | 0.661 | neutral | N | 0.521348536 | None | None | N |
| G/W | 0.42 | ambiguous | 0.3691 | ambiguous | -1.173 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| G/Y | 0.4535 | ambiguous | 0.3987 | ambiguous | -0.89 | Destabilizing | 1.0 | D | 0.663 | 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.