Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31155 | 93688;93689;93690 | chr2:178548163;178548162;178548161 | chr2:179412890;179412889;179412888 |
| N2AB | 29514 | 88765;88766;88767 | chr2:178548163;178548162;178548161 | chr2:179412890;179412889;179412888 |
| N2A | 28587 | 85984;85985;85986 | chr2:178548163;178548162;178548161 | chr2:179412890;179412889;179412888 |
| N2B | 22090 | 66493;66494;66495 | chr2:178548163;178548162;178548161 | chr2:179412890;179412889;179412888 |
| Novex-1 | 22215 | 66868;66869;66870 | chr2:178548163;178548162;178548161 | chr2:179412890;179412889;179412888 |
| Novex-2 | 22282 | 67069;67070;67071 | chr2:178548163;178548162;178548161 | chr2:179412890;179412889;179412888 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs1351647298  |
0.086 | 0.999 | N | 0.626 | 0.268 | 0.248417906384 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| K/N | rs1351647298 |
0.086 | 0.999 | N | 0.626 | 0.268 | 0.248417906384 | gnomAD-4.0.0 | 6.84177E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99444E-07 | 0 | 0 |
| K/R | rs1230714355 |
-0.036 | 0.998 | N | 0.539 | 0.229 | 0.446211707333 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/R | rs1230714355 |
-0.036 | 0.998 | N | 0.539 | 0.229 | 0.446211707333 | gnomAD-4.0.0 | 1.59109E-06 | None | None | None | None | N | None | 0 | 2.28634E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.4444 | ambiguous | 0.382 | ambiguous | -0.281 | Destabilizing | 0.992 | D | 0.566 | neutral | None | None | None | None | N |
| K/C | 0.8231 | likely_pathogenic | 0.8072 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| K/D | 0.787 | likely_pathogenic | 0.7303 | pathogenic | -0.02 | Destabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| K/E | 0.3422 | ambiguous | 0.2826 | benign | 0.023 | Stabilizing | 0.998 | D | 0.589 | neutral | N | 0.518614875 | None | None | N |
| K/F | 0.8913 | likely_pathogenic | 0.8621 | pathogenic | -0.226 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | N |
| K/G | 0.6774 | likely_pathogenic | 0.6163 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | N |
| K/H | 0.4687 | ambiguous | 0.4391 | ambiguous | -0.895 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| K/I | 0.4199 | ambiguous | 0.3694 | ambiguous | 0.417 | Stabilizing | 0.995 | D | 0.635 | neutral | None | None | None | None | N |
| K/L | 0.5422 | ambiguous | 0.4722 | ambiguous | 0.417 | Stabilizing | 0.983 | D | 0.604 | neutral | None | None | None | None | N |
| K/M | 0.3602 | ambiguous | 0.3057 | benign | 0.318 | Stabilizing | 1.0 | D | 0.619 | neutral | N | 0.496603064 | None | None | N |
| K/N | 0.5997 | likely_pathogenic | 0.5327 | ambiguous | -0.094 | Destabilizing | 0.999 | D | 0.626 | neutral | N | 0.471016844 | None | None | N |
| K/P | 0.7958 | likely_pathogenic | 0.7286 | pathogenic | 0.215 | Stabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| K/Q | 0.2273 | likely_benign | 0.2068 | benign | -0.297 | Destabilizing | 0.999 | D | 0.624 | neutral | N | 0.489739756 | None | None | N |
| K/R | 0.1012 | likely_benign | 0.1019 | benign | -0.337 | Destabilizing | 0.998 | D | 0.539 | neutral | N | 0.477257815 | None | None | N |
| K/S | 0.6207 | likely_pathogenic | 0.5542 | ambiguous | -0.7 | Destabilizing | 0.996 | D | 0.595 | neutral | None | None | None | None | N |
| K/T | 0.3336 | likely_benign | 0.2753 | benign | -0.483 | Destabilizing | 0.997 | D | 0.597 | neutral | N | 0.52175118 | None | None | N |
| K/V | 0.399 | ambiguous | 0.3567 | ambiguous | 0.215 | Stabilizing | 0.784 | D | 0.455 | neutral | None | None | None | None | N |
| K/W | 0.8885 | likely_pathogenic | 0.8588 | pathogenic | -0.111 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| K/Y | 0.786 | likely_pathogenic | 0.7328 | pathogenic | 0.193 | Stabilizing | 1.0 | D | 0.693 | prob.neutral | 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.