Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30740 | 92443;92444;92445 | chr2:178549408;178549407;178549406 | chr2:179414135;179414134;179414133 |
| N2AB | 29099 | 87520;87521;87522 | chr2:178549408;178549407;178549406 | chr2:179414135;179414134;179414133 |
| N2A | 28172 | 84739;84740;84741 | chr2:178549408;178549407;178549406 | chr2:179414135;179414134;179414133 |
| N2B | 21675 | 65248;65249;65250 | chr2:178549408;178549407;178549406 | chr2:179414135;179414134;179414133 |
| Novex-1 | 21800 | 65623;65624;65625 | chr2:178549408;178549407;178549406 | chr2:179414135;179414134;179414133 |
| Novex-2 | 21867 | 65824;65825;65826 | chr2:178549408;178549407;178549406 | chr2:179414135;179414134;179414133 |
| 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 | None | None | 1.0 | D | 0.931 | 0.914 | 0.936591070797 | gnomAD-4.0.0 | 1.59165E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-05 | 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 | 0.9969 | likely_pathogenic | 0.9969 | pathogenic | -3.554 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| W/C | 0.9983 | likely_pathogenic | 0.9983 | pathogenic | -2.067 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.696670281 | None | None | N |
| W/D | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -3.695 | Highly Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.579 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| W/F | 0.6638 | likely_pathogenic | 0.6352 | pathogenic | -2.283 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| W/G | 0.9878 | likely_pathogenic | 0.9871 | pathogenic | -3.795 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.696670281 | None | None | N |
| W/H | 0.9976 | likely_pathogenic | 0.9975 | pathogenic | -2.675 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| W/I | 0.9949 | likely_pathogenic | 0.9945 | pathogenic | -2.612 | Highly Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.756 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| W/L | 0.9839 | likely_pathogenic | 0.9846 | pathogenic | -2.612 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.679641899 | None | None | N |
| W/M | 0.9957 | likely_pathogenic | 0.9956 | pathogenic | -2.057 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/N | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.44 | Highly Destabilizing | 1.0 | D | 0.935 | deleterious | None | None | None | None | N |
| W/P | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.959 | Highly Destabilizing | 1.0 | D | 0.937 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.3 | Highly Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.377 | Highly Destabilizing | 1.0 | D | 0.931 | deleterious | D | 0.696670281 | None | None | N |
| W/S | 0.9954 | likely_pathogenic | 0.9958 | pathogenic | -3.63 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | D | 0.696670281 | None | None | N |
| W/T | 0.9979 | likely_pathogenic | 0.9978 | pathogenic | -3.441 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/V | 0.9937 | likely_pathogenic | 0.9929 | pathogenic | -2.959 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| W/Y | 0.9512 | likely_pathogenic | 0.9524 | pathogenic | -2.135 | Highly Destabilizing | 1.0 | D | 0.844 | 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.