Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19305 | 58138;58139;58140 | chr2:178594581;178594580;178594579 | chr2:179459308;179459307;179459306 |
| N2AB | 17664 | 53215;53216;53217 | chr2:178594581;178594580;178594579 | chr2:179459308;179459307;179459306 |
| N2A | 16737 | 50434;50435;50436 | chr2:178594581;178594580;178594579 | chr2:179459308;179459307;179459306 |
| N2B | 10240 | 30943;30944;30945 | chr2:178594581;178594580;178594579 | chr2:179459308;179459307;179459306 |
| Novex-1 | 10365 | 31318;31319;31320 | chr2:178594581;178594580;178594579 | chr2:179459308;179459307;179459306 |
| Novex-2 | 10432 | 31519;31520;31521 | chr2:178594581;178594580;178594579 | chr2:179459308;179459307;179459306 |
| 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/S | None | None | 1.0 | D | 0.864 | 0.744 | 0.899350334792 | gnomAD-4.0.0 | 1.36913E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99802E-07 | 0 | 1.65744E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9993 | likely_pathogenic | 0.9989 | pathogenic | -4.093 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| W/C | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -2.249 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.667106802 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -4.072 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| W/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.959 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/F | 0.9087 | likely_pathogenic | 0.8697 | pathogenic | -2.797 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| W/G | 0.9957 | likely_pathogenic | 0.9944 | pathogenic | -4.311 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.667106802 | None | None | N |
| W/H | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -3.384 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/I | 0.9981 | likely_pathogenic | 0.9964 | pathogenic | -3.209 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| W/K | 1.0 | likely_pathogenic | 0.9999 | pathogenic | -3.161 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/L | 0.9959 | likely_pathogenic | 0.9921 | pathogenic | -3.209 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.665895977 | None | None | N |
| W/M | 0.9989 | likely_pathogenic | 0.998 | pathogenic | -2.544 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| W/N | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.767 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| W/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.539 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| W/Q | 1.0 | likely_pathogenic | 0.9999 | pathogenic | -3.643 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.746 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.667106802 | None | None | N |
| W/S | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -3.921 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.667106802 | None | None | N |
| W/T | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -3.736 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| W/V | 0.9983 | likely_pathogenic | 0.9965 | pathogenic | -3.539 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| W/Y | 0.9831 | likely_pathogenic | 0.9749 | pathogenic | -2.718 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | 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.