Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31184 | 93775;93776;93777 | chr2:178548076;178548075;178548074 | chr2:179412803;179412802;179412801 |
| N2AB | 29543 | 88852;88853;88854 | chr2:178548076;178548075;178548074 | chr2:179412803;179412802;179412801 |
| N2A | 28616 | 86071;86072;86073 | chr2:178548076;178548075;178548074 | chr2:179412803;179412802;179412801 |
| N2B | 22119 | 66580;66581;66582 | chr2:178548076;178548075;178548074 | chr2:179412803;179412802;179412801 |
| Novex-1 | 22244 | 66955;66956;66957 | chr2:178548076;178548075;178548074 | chr2:179412803;179412802;179412801 |
| Novex-2 | 22311 | 67156;67157;67158 | chr2:178548076;178548075;178548074 | chr2:179412803;179412802;179412801 |
| 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/V | None | None | 1.0 | N | 0.753 | 0.517 | 0.533375117726 | gnomAD-4.0.0 | 8.43601E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77624E-04 | None | 0 | 0 | 7.90624E-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 | 0.9973 | likely_pathogenic | 0.9963 | pathogenic | -2.969 | Highly Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| F/C | 0.9852 | likely_pathogenic | 0.9811 | pathogenic | -2.164 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.550758607 | None | None | N |
| F/D | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -3.945 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| F/E | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -3.715 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| F/G | 0.9969 | likely_pathogenic | 0.9956 | pathogenic | -3.413 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| F/H | 0.9974 | likely_pathogenic | 0.9963 | pathogenic | -2.246 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| F/I | 0.921 | likely_pathogenic | 0.8909 | pathogenic | -1.493 | Destabilizing | 1.0 | D | 0.769 | deleterious | N | 0.489716984 | None | None | N |
| F/K | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -2.86 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| F/L | 0.9923 | likely_pathogenic | 0.9896 | pathogenic | -1.493 | Destabilizing | 0.999 | D | 0.659 | neutral | N | 0.49888447 | None | None | N |
| F/M | 0.9671 | likely_pathogenic | 0.9602 | pathogenic | -1.192 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| F/N | 0.9983 | likely_pathogenic | 0.9976 | pathogenic | -3.551 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -2.001 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| F/Q | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -3.392 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| F/R | 0.999 | likely_pathogenic | 0.9982 | pathogenic | -2.52 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| F/S | 0.9982 | likely_pathogenic | 0.9976 | pathogenic | -4.019 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.539237717 | None | None | N |
| F/T | 0.9984 | likely_pathogenic | 0.9978 | pathogenic | -3.667 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| F/V | 0.9481 | likely_pathogenic | 0.9332 | pathogenic | -2.001 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.483775047 | None | None | N |
| F/W | 0.921 | likely_pathogenic | 0.9075 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| F/Y | 0.6272 | likely_pathogenic | 0.6256 | pathogenic | -1.206 | Destabilizing | 0.999 | D | 0.591 | neutral | N | 0.502749265 | 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.