Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22816 | 68671;68672;68673 | chr2:178578069;178578068;178578067 | chr2:179442796;179442795;179442794 |
| N2AB | 21175 | 63748;63749;63750 | chr2:178578069;178578068;178578067 | chr2:179442796;179442795;179442794 |
| N2A | 20248 | 60967;60968;60969 | chr2:178578069;178578068;178578067 | chr2:179442796;179442795;179442794 |
| N2B | 13751 | 41476;41477;41478 | chr2:178578069;178578068;178578067 | chr2:179442796;179442795;179442794 |
| Novex-1 | 13876 | 41851;41852;41853 | chr2:178578069;178578068;178578067 | chr2:179442796;179442795;179442794 |
| Novex-2 | 13943 | 42052;42053;42054 | chr2:178578069;178578068;178578067 | chr2:179442796;179442795;179442794 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | rs767342781  |
-3.517 | 1.0 | D | 0.823 | 0.76 | 0.848892600203 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| F/S | rs767342781 |
-3.517 | 1.0 | D | 0.823 | 0.76 | 0.848892600203 | gnomAD-4.0.0 | 1.59243E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43332E-05 | 0 |
| F/Y | rs767342781 |
-1.138 | 0.999 | N | 0.582 | 0.466 | 0.65177841282 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9953 | likely_pathogenic | 0.9953 | pathogenic | -2.733 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| F/C | 0.9377 | likely_pathogenic | 0.9371 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.562114912 | None | None | N |
| F/D | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -3.669 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/E | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -3.422 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| F/G | 0.9956 | likely_pathogenic | 0.9953 | pathogenic | -3.188 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| F/H | 0.9855 | likely_pathogenic | 0.9855 | pathogenic | -2.369 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| F/I | 0.9317 | likely_pathogenic | 0.9386 | pathogenic | -1.216 | Destabilizing | 1.0 | D | 0.774 | deleterious | N | 0.505681645 | None | None | N |
| F/K | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.372 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| F/L | 0.9936 | likely_pathogenic | 0.9931 | pathogenic | -1.216 | Destabilizing | 0.999 | D | 0.669 | neutral | N | 0.502999073 | None | None | N |
| F/M | 0.96 | likely_pathogenic | 0.9594 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| F/N | 0.9963 | likely_pathogenic | 0.9961 | pathogenic | -3.12 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.74 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| F/Q | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -2.875 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| F/R | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -2.289 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| F/S | 0.9961 | likely_pathogenic | 0.9957 | pathogenic | -3.483 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.562114912 | None | None | N |
| F/T | 0.997 | likely_pathogenic | 0.9969 | pathogenic | -3.11 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| F/V | 0.9331 | likely_pathogenic | 0.9386 | pathogenic | -1.74 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.497270946 | None | None | N |
| F/W | 0.9186 | likely_pathogenic | 0.9171 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| F/Y | 0.4724 | ambiguous | 0.478 | ambiguous | -1.085 | Destabilizing | 0.999 | D | 0.582 | neutral | N | 0.497153404 | 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.