Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18954 | 57085;57086;57087 | chr2:178598850;178598849;178598848 | chr2:179463577;179463576;179463575 |
| N2AB | 17313 | 52162;52163;52164 | chr2:178598850;178598849;178598848 | chr2:179463577;179463576;179463575 |
| N2A | 16386 | 49381;49382;49383 | chr2:178598850;178598849;178598848 | chr2:179463577;179463576;179463575 |
| N2B | 9889 | 29890;29891;29892 | chr2:178598850;178598849;178598848 | chr2:179463577;179463576;179463575 |
| Novex-1 | 10014 | 30265;30266;30267 | chr2:178598850;178598849;178598848 | chr2:179463577;179463576;179463575 |
| Novex-2 | 10081 | 30466;30467;30468 | chr2:178598850;178598849;178598848 | chr2:179463577;179463576;179463575 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs1411922083  |
-0.706 | 0.959 | N | 0.333 | 0.229 | 0.580704020645 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| I/T | rs1411922083 |
-0.706 | 0.959 | N | 0.333 | 0.229 | 0.580704020645 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/T | rs1411922083 |
-0.706 | 0.959 | N | 0.333 | 0.229 | 0.580704020645 | gnomAD-4.0.0 | 4.33902E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93453E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3241 | likely_benign | 0.3983 | ambiguous | -0.968 | Destabilizing | 0.863 | D | 0.337 | neutral | None | None | None | None | N |
| I/C | 0.793 | likely_pathogenic | 0.8223 | pathogenic | -0.825 | Destabilizing | 0.999 | D | 0.321 | neutral | None | None | None | None | N |
| I/D | 0.8825 | likely_pathogenic | 0.9008 | pathogenic | 0.034 | Stabilizing | 0.991 | D | 0.39 | neutral | None | None | None | None | N |
| I/E | 0.715 | likely_pathogenic | 0.7244 | pathogenic | -0.003 | Destabilizing | 0.884 | D | 0.421 | neutral | None | None | None | None | N |
| I/F | 0.2637 | likely_benign | 0.2734 | benign | -0.684 | Destabilizing | 0.92 | D | 0.29 | neutral | N | 0.496162089 | None | None | N |
| I/G | 0.7639 | likely_pathogenic | 0.8087 | pathogenic | -1.207 | Destabilizing | 0.969 | D | 0.385 | neutral | None | None | None | None | N |
| I/H | 0.6684 | likely_pathogenic | 0.6827 | pathogenic | -0.312 | Destabilizing | 0.998 | D | 0.353 | neutral | None | None | None | None | N |
| I/K | 0.5833 | likely_pathogenic | 0.5961 | pathogenic | -0.478 | Destabilizing | 0.884 | D | 0.416 | neutral | None | None | None | None | N |
| I/L | 0.1005 | likely_benign | 0.1051 | benign | -0.431 | Destabilizing | 0.005 | N | 0.072 | neutral | N | 0.454736754 | None | None | N |
| I/M | 0.0956 | likely_benign | 0.1031 | benign | -0.511 | Destabilizing | 0.509 | D | 0.159 | neutral | N | 0.51474785 | None | None | N |
| I/N | 0.4956 | ambiguous | 0.5859 | pathogenic | -0.334 | Destabilizing | 0.988 | D | 0.395 | neutral | N | 0.484886303 | None | None | N |
| I/P | 0.859 | likely_pathogenic | 0.8765 | pathogenic | -0.576 | Destabilizing | 0.997 | D | 0.399 | neutral | None | None | None | None | N |
| I/Q | 0.4885 | ambiguous | 0.5112 | ambiguous | -0.484 | Destabilizing | 0.373 | N | 0.301 | neutral | None | None | None | None | N |
| I/R | 0.4571 | ambiguous | 0.4707 | ambiguous | 0.044 | Stabilizing | 0.982 | D | 0.392 | neutral | None | None | None | None | N |
| I/S | 0.395 | ambiguous | 0.4644 | ambiguous | -0.952 | Destabilizing | 0.92 | D | 0.372 | neutral | N | 0.470532926 | None | None | N |
| I/T | 0.1529 | likely_benign | 0.2114 | benign | -0.864 | Destabilizing | 0.959 | D | 0.333 | neutral | N | 0.457275627 | None | None | N |
| I/V | 0.0935 | likely_benign | 0.1225 | benign | -0.576 | Destabilizing | 0.509 | D | 0.175 | neutral | N | 0.475016026 | None | None | N |
| I/W | 0.7861 | likely_pathogenic | 0.7586 | pathogenic | -0.678 | Destabilizing | 0.999 | D | 0.361 | neutral | None | None | None | None | N |
| I/Y | 0.6801 | likely_pathogenic | 0.658 | pathogenic | -0.448 | Destabilizing | 0.997 | D | 0.344 | 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.