Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31556 | 94891;94892;94893 | chr2:178546762;178546761;178546760 | chr2:179411489;179411488;179411487 |
| N2AB | 29915 | 89968;89969;89970 | chr2:178546762;178546761;178546760 | chr2:179411489;179411488;179411487 |
| N2A | 28988 | 87187;87188;87189 | chr2:178546762;178546761;178546760 | chr2:179411489;179411488;179411487 |
| N2B | 22491 | 67696;67697;67698 | chr2:178546762;178546761;178546760 | chr2:179411489;179411488;179411487 |
| Novex-1 | 22616 | 68071;68072;68073 | chr2:178546762;178546761;178546760 | chr2:179411489;179411488;179411487 |
| Novex-2 | 22683 | 68272;68273;68274 | chr2:178546762;178546761;178546760 | chr2:179411489;179411488;179411487 |
| 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/G | None | None | 1.0 | D | 0.711 | 0.661 | 0.815528009864 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 | 0.9977 | likely_pathogenic | 0.9967 | pathogenic | -2.709 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| W/C | 0.9988 | likely_pathogenic | 0.9981 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.540548526 | None | None | N |
| W/D | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -1.475 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| W/E | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.414 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| W/F | 0.7774 | likely_pathogenic | 0.7001 | pathogenic | -1.656 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| W/G | 0.9894 | likely_pathogenic | 0.986 | pathogenic | -2.896 | Highly Destabilizing | 1.0 | D | 0.711 | prob.delet. | D | 0.554284688 | None | None | N |
| W/H | 0.9956 | likely_pathogenic | 0.9937 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| W/I | 0.9957 | likely_pathogenic | 0.9932 | pathogenic | -2.043 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.396 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| W/L | 0.9853 | likely_pathogenic | 0.9799 | pathogenic | -2.043 | Highly Destabilizing | 1.0 | D | 0.711 | prob.delet. | D | 0.532885069 | None | None | N |
| W/M | 0.9972 | likely_pathogenic | 0.9956 | pathogenic | -1.444 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| W/N | 0.9986 | likely_pathogenic | 0.9981 | pathogenic | -1.748 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| W/P | 0.9971 | likely_pathogenic | 0.9955 | pathogenic | -2.279 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.754 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| W/R | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.554284688 | None | None | N |
| W/S | 0.995 | likely_pathogenic | 0.9934 | pathogenic | -2.126 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.55352422 | None | None | N |
| W/T | 0.9979 | likely_pathogenic | 0.9969 | pathogenic | -2.023 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| W/V | 0.9958 | likely_pathogenic | 0.9937 | pathogenic | -2.279 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| W/Y | 0.9044 | likely_pathogenic | 0.8659 | pathogenic | -1.526 | Destabilizing | 1.0 | D | 0.632 | 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.