Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30692 | 92299;92300;92301 | chr2:178549648;178549647;178549646 | chr2:179414375;179414374;179414373 |
| N2AB | 29051 | 87376;87377;87378 | chr2:178549648;178549647;178549646 | chr2:179414375;179414374;179414373 |
| N2A | 28124 | 84595;84596;84597 | chr2:178549648;178549647;178549646 | chr2:179414375;179414374;179414373 |
| N2B | 21627 | 65104;65105;65106 | chr2:178549648;178549647;178549646 | chr2:179414375;179414374;179414373 |
| Novex-1 | 21752 | 65479;65480;65481 | chr2:178549648;178549647;178549646 | chr2:179414375;179414374;179414373 |
| Novex-2 | 21819 | 65680;65681;65682 | chr2:178549648;178549647;178549646 | chr2:179414375;179414374;179414373 |
| 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/L | None | None | 0.999 | D | 0.669 | 0.553 | 0.475895305069 | gnomAD-4.0.0 | 1.59136E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8585E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9969 | likely_pathogenic | 0.997 | pathogenic | -2.194 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| F/C | 0.9674 | likely_pathogenic | 0.9687 | pathogenic | -1.375 | Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.561950328 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.367 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.125 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| F/G | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -2.645 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| F/H | 0.9972 | likely_pathogenic | 0.997 | pathogenic | -2.019 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| F/I | 0.8775 | likely_pathogenic | 0.9007 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.512923347 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.145 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| F/L | 0.9906 | likely_pathogenic | 0.9919 | pathogenic | -0.712 | Destabilizing | 0.999 | D | 0.669 | neutral | D | 0.53114296 | None | None | N |
| F/M | 0.9596 | likely_pathogenic | 0.9623 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| F/N | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -2.921 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.221 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| F/Q | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.634 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| F/R | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.174 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| F/S | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -3.26 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.561950328 | None | None | N |
| F/T | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -2.887 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| F/V | 0.8921 | likely_pathogenic | 0.9127 | pathogenic | -1.221 | Destabilizing | 1.0 | D | 0.756 | deleterious | N | 0.513071023 | None | None | N |
| F/W | 0.9454 | likely_pathogenic | 0.948 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| F/Y | 0.7347 | likely_pathogenic | 0.7521 | pathogenic | -0.754 | Destabilizing | 0.999 | D | 0.59 | neutral | N | 0.518549342 | 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.