Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16415 | 49468;49469;49470 | chr2:178614154;178614153;178614152 | chr2:179478881;179478880;179478879 |
| N2AB | 14774 | 44545;44546;44547 | chr2:178614154;178614153;178614152 | chr2:179478881;179478880;179478879 |
| N2A | 13847 | 41764;41765;41766 | chr2:178614154;178614153;178614152 | chr2:179478881;179478880;179478879 |
| N2B | 7350 | 22273;22274;22275 | chr2:178614154;178614153;178614152 | chr2:179478881;179478880;179478879 |
| Novex-1 | 7475 | 22648;22649;22650 | chr2:178614154;178614153;178614152 | chr2:179478881;179478880;179478879 |
| Novex-2 | 7542 | 22849;22850;22851 | chr2:178614154;178614153;178614152 | chr2:179478881;179478880;179478879 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs779906601  |
-2.121 | 1.0 | D | 0.871 | 0.7 | 0.799705136829 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/F | rs779906601 |
-2.121 | 1.0 | D | 0.871 | 0.7 | 0.799705136829 | gnomAD-4.0.0 | 1.59387E-06 | None | None | None | None | N | None | 5.67344E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9891 | likely_pathogenic | 0.987 | pathogenic | -2.841 | Highly Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| L/C | 0.9818 | likely_pathogenic | 0.9789 | pathogenic | -2.422 | Highly Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| L/D | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -3.073 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| L/E | 0.9984 | likely_pathogenic | 0.9978 | pathogenic | -2.89 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| L/F | 0.9025 | likely_pathogenic | 0.8552 | pathogenic | -1.868 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.808383383 | None | None | N |
| L/G | 0.9959 | likely_pathogenic | 0.9948 | pathogenic | -3.361 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| L/H | 0.9959 | likely_pathogenic | 0.9938 | pathogenic | -2.65 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| L/I | 0.5841 | likely_pathogenic | 0.5454 | ambiguous | -1.352 | Destabilizing | 0.999 | D | 0.842 | deleterious | D | 0.75686029 | None | None | N |
| L/K | 0.9963 | likely_pathogenic | 0.9949 | pathogenic | -2.256 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| L/M | 0.5965 | likely_pathogenic | 0.5402 | ambiguous | -1.354 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| L/N | 0.9955 | likely_pathogenic | 0.9949 | pathogenic | -2.524 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| L/P | 0.9968 | likely_pathogenic | 0.9964 | pathogenic | -1.828 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| L/Q | 0.9942 | likely_pathogenic | 0.9921 | pathogenic | -2.48 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| L/R | 0.9929 | likely_pathogenic | 0.9905 | pathogenic | -1.792 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| L/S | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -3.268 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.838361508 | None | None | N |
| L/T | 0.99 | likely_pathogenic | 0.989 | pathogenic | -2.939 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| L/V | 0.7307 | likely_pathogenic | 0.7166 | pathogenic | -1.828 | Destabilizing | 0.999 | D | 0.849 | deleterious | D | 0.668835765 | None | None | N |
| L/W | 0.99 | likely_pathogenic | 0.9833 | pathogenic | -2.158 | Highly Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| L/Y | 0.9898 | likely_pathogenic | 0.9845 | pathogenic | -1.936 | Destabilizing | 1.0 | D | 0.823 | 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.