Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22384 | 67375;67376;67377 | chr2:178580137;178580136;178580135 | chr2:179444864;179444863;179444862 |
| N2AB | 20743 | 62452;62453;62454 | chr2:178580137;178580136;178580135 | chr2:179444864;179444863;179444862 |
| N2A | 19816 | 59671;59672;59673 | chr2:178580137;178580136;178580135 | chr2:179444864;179444863;179444862 |
| N2B | 13319 | 40180;40181;40182 | chr2:178580137;178580136;178580135 | chr2:179444864;179444863;179444862 |
| Novex-1 | 13444 | 40555;40556;40557 | chr2:178580137;178580136;178580135 | chr2:179444864;179444863;179444862 |
| Novex-2 | 13511 | 40756;40757;40758 | chr2:178580137;178580136;178580135 | chr2:179444864;179444863;179444862 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs1451120123  |
None | 0.983 | N | 0.745 | 0.272 | 0.303453137403 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/N | rs1451120123 |
None | 0.983 | N | 0.745 | 0.272 | 0.303453137403 | gnomAD-4.0.0 | 3.8458E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.18384E-06 | 0 | 0 |
| S/T | None | None | 0.892 | N | 0.625 | 0.174 | 0.263140351381 | gnomAD-4.0.0 | 1.59233E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43308E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1268 | likely_benign | 0.1221 | benign | -0.754 | Destabilizing | 0.033 | N | 0.435 | neutral | None | None | None | None | I |
| S/C | 0.1479 | likely_benign | 0.1348 | benign | -0.475 | Destabilizing | 0.995 | D | 0.729 | prob.delet. | N | 0.488667027 | None | None | I |
| S/D | 0.9122 | likely_pathogenic | 0.9269 | pathogenic | -0.383 | Destabilizing | 0.957 | D | 0.713 | prob.delet. | None | None | None | None | I |
| S/E | 0.938 | likely_pathogenic | 0.9481 | pathogenic | -0.361 | Destabilizing | 0.916 | D | 0.689 | prob.neutral | None | None | None | None | I |
| S/F | 0.5711 | likely_pathogenic | 0.5573 | ambiguous | -0.822 | Destabilizing | 0.987 | D | 0.758 | deleterious | None | None | None | None | I |
| S/G | 0.3324 | likely_benign | 0.3263 | benign | -1.03 | Destabilizing | 0.805 | D | 0.613 | neutral | N | 0.471147613 | None | None | I |
| S/H | 0.7187 | likely_pathogenic | 0.6947 | pathogenic | -1.489 | Destabilizing | 0.999 | D | 0.732 | prob.delet. | None | None | None | None | I |
| S/I | 0.6284 | likely_pathogenic | 0.691 | pathogenic | -0.118 | Destabilizing | 0.967 | D | 0.765 | deleterious | N | 0.500730894 | None | None | I |
| S/K | 0.9398 | likely_pathogenic | 0.9512 | pathogenic | -0.73 | Destabilizing | 0.916 | D | 0.697 | prob.neutral | None | None | None | None | I |
| S/L | 0.2606 | likely_benign | 0.2724 | benign | -0.118 | Destabilizing | 0.845 | D | 0.699 | prob.neutral | None | None | None | None | I |
| S/M | 0.4927 | ambiguous | 0.475 | ambiguous | 0.127 | Stabilizing | 0.999 | D | 0.732 | prob.delet. | None | None | None | None | I |
| S/N | 0.5711 | likely_pathogenic | 0.5658 | pathogenic | -0.751 | Destabilizing | 0.983 | D | 0.745 | deleterious | N | 0.502212151 | None | None | I |
| S/P | 0.993 | likely_pathogenic | 0.9955 | pathogenic | -0.295 | Destabilizing | 0.987 | D | 0.748 | deleterious | None | None | None | None | I |
| S/Q | 0.8424 | likely_pathogenic | 0.8447 | pathogenic | -0.85 | Destabilizing | 0.987 | D | 0.747 | deleterious | None | None | None | None | I |
| S/R | 0.921 | likely_pathogenic | 0.9355 | pathogenic | -0.676 | Destabilizing | 0.983 | D | 0.749 | deleterious | N | 0.48882793 | None | None | I |
| S/T | 0.2671 | likely_benign | 0.3066 | benign | -0.724 | Destabilizing | 0.892 | D | 0.625 | neutral | N | 0.48237315 | None | None | I |
| S/V | 0.5236 | ambiguous | 0.5705 | pathogenic | -0.295 | Destabilizing | 0.95 | D | 0.743 | deleterious | None | None | None | None | I |
| S/W | 0.8237 | likely_pathogenic | 0.8159 | pathogenic | -0.832 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | I |
| S/Y | 0.5265 | ambiguous | 0.5035 | ambiguous | -0.561 | Destabilizing | 0.996 | D | 0.756 | deleterious | None | None | None | None | I |
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.