Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15464 | 46615;46616;46617 | chr2:178620027;178620026;178620025 | chr2:179484754;179484753;179484752 |
| N2AB | 13823 | 41692;41693;41694 | chr2:178620027;178620026;178620025 | chr2:179484754;179484753;179484752 |
| N2A | 12896 | 38911;38912;38913 | chr2:178620027;178620026;178620025 | chr2:179484754;179484753;179484752 |
| N2B | 6399 | 19420;19421;19422 | chr2:178620027;178620026;178620025 | chr2:179484754;179484753;179484752 |
| Novex-1 | 6524 | 19795;19796;19797 | chr2:178620027;178620026;178620025 | chr2:179484754;179484753;179484752 |
| Novex-2 | 6591 | 19996;19997;19998 | chr2:178620027;178620026;178620025 | chr2:179484754;179484753;179484752 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1191623943  |
-2.031 | 0.928 | N | 0.623 | 0.304 | 0.464442853059 | gnomAD-2.1.1 | 8.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.66E-05 | 9E-06 | 0 |
| V/A | rs1191623943 |
-2.031 | 0.928 | N | 0.623 | 0.304 | 0.464442853059 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 0 | 0 | 0 |
| V/A | rs1191623943 |
-2.031 | 0.928 | N | 0.623 | 0.304 | 0.464442853059 | gnomAD-4.0.0 | 7.70634E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 7.85151E-05 | 0 | 2.39886E-06 | 0 | 0 |
| V/I | rs763137958 |
-0.476 | 0.039 | N | 0.31 | 0.121 | 0.433157607263 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.99E-06 | 0 |
| V/L | rs763137958 |
-0.478 | 0.476 | D | 0.651 | 0.273 | 0.405422107966 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs763137958 |
-0.478 | 0.476 | D | 0.651 | 0.273 | 0.405422107966 | gnomAD-4.0.0 | 1.59548E-06 | None | None | None | None | N | None | 0 | 2.29274E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3271 | likely_benign | 0.4692 | ambiguous | -1.806 | Destabilizing | 0.928 | D | 0.623 | neutral | N | 0.423341802 | None | None | N |
| V/C | 0.8663 | likely_pathogenic | 0.9152 | pathogenic | -1.291 | Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| V/D | 0.8615 | likely_pathogenic | 0.9182 | pathogenic | -1.998 | Destabilizing | 0.997 | D | 0.837 | deleterious | None | None | None | None | N |
| V/E | 0.8134 | likely_pathogenic | 0.8859 | pathogenic | -1.887 | Destabilizing | 0.996 | D | 0.832 | deleterious | D | 0.664485294 | None | None | N |
| V/F | 0.4099 | ambiguous | 0.4837 | ambiguous | -1.161 | Destabilizing | 0.983 | D | 0.829 | deleterious | None | None | None | None | N |
| V/G | 0.531 | ambiguous | 0.6824 | pathogenic | -2.255 | Highly Destabilizing | 0.989 | D | 0.833 | deleterious | D | 0.623968094 | None | None | N |
| V/H | 0.9237 | likely_pathogenic | 0.9579 | pathogenic | -1.993 | Destabilizing | 0.999 | D | 0.845 | deleterious | None | None | None | None | N |
| V/I | 0.1019 | likely_benign | 0.1195 | benign | -0.609 | Destabilizing | 0.039 | N | 0.31 | neutral | N | 0.514669422 | None | None | N |
| V/K | 0.8585 | likely_pathogenic | 0.9026 | pathogenic | -1.536 | Destabilizing | 0.992 | D | 0.835 | deleterious | None | None | None | None | N |
| V/L | 0.441 | ambiguous | 0.5788 | pathogenic | -0.609 | Destabilizing | 0.476 | N | 0.651 | neutral | D | 0.525904319 | None | None | N |
| V/M | 0.3402 | ambiguous | 0.4686 | ambiguous | -0.53 | Destabilizing | 0.983 | D | 0.789 | deleterious | None | None | None | None | N |
| V/N | 0.7461 | likely_pathogenic | 0.8554 | pathogenic | -1.519 | Destabilizing | 0.997 | D | 0.846 | deleterious | None | None | None | None | N |
| V/P | 0.9643 | likely_pathogenic | 0.978 | pathogenic | -0.976 | Destabilizing | 0.997 | D | 0.831 | deleterious | None | None | None | None | N |
| V/Q | 0.8072 | likely_pathogenic | 0.8868 | pathogenic | -1.521 | Destabilizing | 0.997 | D | 0.837 | deleterious | None | None | None | None | N |
| V/R | 0.8224 | likely_pathogenic | 0.8694 | pathogenic | -1.229 | Destabilizing | 0.997 | D | 0.837 | deleterious | None | None | None | None | N |
| V/S | 0.5269 | ambiguous | 0.6813 | pathogenic | -2.109 | Highly Destabilizing | 0.992 | D | 0.829 | deleterious | None | None | None | None | N |
| V/T | 0.3321 | likely_benign | 0.483 | ambiguous | -1.871 | Destabilizing | 0.944 | D | 0.705 | prob.neutral | None | None | None | None | N |
| V/W | 0.9614 | likely_pathogenic | 0.9765 | pathogenic | -1.561 | Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | N |
| V/Y | 0.8641 | likely_pathogenic | 0.9088 | pathogenic | -1.211 | Destabilizing | 0.992 | D | 0.823 | 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.