Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22230 | 66913;66914;66915 | chr2:178581580;178581579;178581578 | chr2:179446307;179446306;179446305 |
| N2AB | 20589 | 61990;61991;61992 | chr2:178581580;178581579;178581578 | chr2:179446307;179446306;179446305 |
| N2A | 19662 | 59209;59210;59211 | chr2:178581580;178581579;178581578 | chr2:179446307;179446306;179446305 |
| N2B | 13165 | 39718;39719;39720 | chr2:178581580;178581579;178581578 | chr2:179446307;179446306;179446305 |
| Novex-1 | 13290 | 40093;40094;40095 | chr2:178581580;178581579;178581578 | chr2:179446307;179446306;179446305 |
| Novex-2 | 13357 | 40294;40295;40296 | chr2:178581580;178581579;178581578 | chr2:179446307;179446306;179446305 |
| 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 | N | 0.665 | 0.527 | 0.473774312618 | gnomAD-4.0.0 | 1.36958E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80014E-06 | 0 | 0 |
| F/V | None | None | 1.0 | N | 0.757 | 0.531 | 0.807746936315 | gnomAD-4.0.0 | 1.59392E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43357E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.992 | likely_pathogenic | 0.9948 | pathogenic | -2.886 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| F/C | 0.9195 | likely_pathogenic | 0.9467 | pathogenic | -2.001 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.532818936 | None | None | N |
| F/D | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -4.018 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| F/E | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -3.8 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| F/G | 0.9946 | likely_pathogenic | 0.9966 | pathogenic | -3.308 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| F/H | 0.9959 | likely_pathogenic | 0.9968 | pathogenic | -2.187 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| F/I | 0.7722 | likely_pathogenic | 0.8253 | pathogenic | -1.48 | Destabilizing | 1.0 | D | 0.764 | deleterious | N | 0.474410659 | None | None | N |
| F/K | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -2.699 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| F/L | 0.9646 | likely_pathogenic | 0.9786 | pathogenic | -1.48 | Destabilizing | 0.999 | D | 0.665 | neutral | N | 0.486869828 | None | None | N |
| F/M | 0.8811 | likely_pathogenic | 0.9176 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| F/N | 0.9985 | likely_pathogenic | 0.9989 | pathogenic | -3.386 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/P | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.965 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/Q | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -3.264 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| F/R | 0.9984 | likely_pathogenic | 0.9988 | pathogenic | -2.336 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| F/S | 0.9974 | likely_pathogenic | 0.9982 | pathogenic | -3.798 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.555531547 | None | None | N |
| F/T | 0.9964 | likely_pathogenic | 0.9975 | pathogenic | -3.465 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| F/V | 0.8146 | likely_pathogenic | 0.8649 | pathogenic | -1.965 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.493156343 | None | None | N |
| F/W | 0.9321 | likely_pathogenic | 0.9435 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| F/Y | 0.6865 | likely_pathogenic | 0.7544 | pathogenic | -1.2 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.505053443 | 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.