Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22888 | 68887;68888;68889 | chr2:178577764;178577763;178577762 | chr2:179442491;179442490;179442489 |
| N2AB | 21247 | 63964;63965;63966 | chr2:178577764;178577763;178577762 | chr2:179442491;179442490;179442489 |
| N2A | 20320 | 61183;61184;61185 | chr2:178577764;178577763;178577762 | chr2:179442491;179442490;179442489 |
| N2B | 13823 | 41692;41693;41694 | chr2:178577764;178577763;178577762 | chr2:179442491;179442490;179442489 |
| Novex-1 | 13948 | 42067;42068;42069 | chr2:178577764;178577763;178577762 | chr2:179442491;179442490;179442489 |
| Novex-2 | 14015 | 42268;42269;42270 | chr2:178577764;178577763;178577762 | chr2:179442491;179442490;179442489 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs771372905  |
-0.944 | 1.0 | D | 0.745 | 0.542 | 0.72770009958 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9914 | likely_pathogenic | 0.9917 | pathogenic | -2.911 | Highly Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| W/C | 0.9954 | likely_pathogenic | 0.9954 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.56120527 | None | None | N |
| W/D | 0.9976 | likely_pathogenic | 0.9979 | pathogenic | -1.199 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| W/E | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| W/F | 0.5517 | ambiguous | 0.626 | pathogenic | -1.862 | Destabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| W/G | 0.9759 | likely_pathogenic | 0.9734 | pathogenic | -3.098 | Highly Destabilizing | 1.0 | D | 0.655 | neutral | D | 0.559937822 | None | None | N |
| W/H | 0.9885 | likely_pathogenic | 0.9907 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| W/I | 0.9865 | likely_pathogenic | 0.9871 | pathogenic | -2.247 | Highly Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| W/K | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| W/L | 0.9626 | likely_pathogenic | 0.9652 | pathogenic | -2.247 | Highly Destabilizing | 1.0 | D | 0.655 | neutral | D | 0.529463304 | None | None | N |
| W/M | 0.9904 | likely_pathogenic | 0.9915 | pathogenic | -1.642 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| W/N | 0.9966 | likely_pathogenic | 0.9969 | pathogenic | -1.524 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| W/P | 0.9937 | likely_pathogenic | 0.9932 | pathogenic | -2.482 | Highly Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -1.578 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| W/R | 0.9973 | likely_pathogenic | 0.9974 | pathogenic | -0.647 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.542340546 | None | None | N |
| W/S | 0.9831 | likely_pathogenic | 0.9827 | pathogenic | -2.049 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.536718232 | None | None | N |
| W/T | 0.9909 | likely_pathogenic | 0.9911 | pathogenic | -1.946 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| W/V | 0.9828 | likely_pathogenic | 0.9842 | pathogenic | -2.482 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| W/Y | 0.8309 | likely_pathogenic | 0.8624 | pathogenic | -1.647 | Destabilizing | 1.0 | D | 0.613 | 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.