Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5693 | 17302;17303;17304 | chr2:178731798;178731797;178731796 | chr2:179596525;179596524;179596523 |
| N2AB | 5376 | 16351;16352;16353 | chr2:178731798;178731797;178731796 | chr2:179596525;179596524;179596523 |
| N2A | 4449 | 13570;13571;13572 | chr2:178731798;178731797;178731796 | chr2:179596525;179596524;179596523 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/I | rs1560804311  |
0.826 | 0.976 | N | 0.682 | 0.406 | 0.737805688366 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/I | rs1560804311 |
0.826 | 0.976 | N | 0.682 | 0.406 | 0.737805688366 | gnomAD-4.0.0 | 3.18242E-06 | None | None | None | None | N | None | 0 | 2.28645E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| S/R | rs372588069 |
-0.251 | 0.988 | N | 0.701 | 0.387 | 0.505946769237 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| S/R | rs372588069 |
-0.251 | 0.988 | N | 0.701 | 0.387 | 0.505946769237 | gnomAD-4.0.0 | 1.3684E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79894E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1095 | likely_benign | 0.1176 | benign | -0.372 | Destabilizing | 0.079 | N | 0.315 | neutral | None | None | None | None | N |
| S/C | 0.1262 | likely_benign | 0.1365 | benign | 0.044 | Stabilizing | 0.999 | D | 0.671 | neutral | D | 0.537313358 | None | None | N |
| S/D | 0.7971 | likely_pathogenic | 0.8459 | pathogenic | -1.41 | Destabilizing | 0.969 | D | 0.675 | neutral | None | None | None | None | N |
| S/E | 0.8051 | likely_pathogenic | 0.8389 | pathogenic | -1.131 | Destabilizing | 0.969 | D | 0.671 | neutral | None | None | None | None | N |
| S/F | 0.2913 | likely_benign | 0.3283 | benign | -0.237 | Destabilizing | 0.997 | D | 0.695 | prob.neutral | None | None | None | None | N |
| S/G | 0.1438 | likely_benign | 0.1597 | benign | -0.806 | Destabilizing | 0.704 | D | 0.657 | neutral | N | 0.506086374 | None | None | N |
| S/H | 0.4987 | ambiguous | 0.5429 | ambiguous | -1.073 | Destabilizing | 0.999 | D | 0.673 | neutral | None | None | None | None | N |
| S/I | 0.3171 | likely_benign | 0.3611 | ambiguous | 0.77 | Stabilizing | 0.976 | D | 0.682 | prob.neutral | N | 0.508414603 | None | None | N |
| S/K | 0.8862 | likely_pathogenic | 0.9176 | pathogenic | 0.615 | Stabilizing | 0.939 | D | 0.67 | neutral | None | None | None | None | N |
| S/L | 0.1579 | likely_benign | 0.1797 | benign | 0.77 | Stabilizing | 0.939 | D | 0.669 | neutral | None | None | None | None | N |
| S/M | 0.2872 | likely_benign | 0.3129 | benign | 0.384 | Stabilizing | 0.997 | D | 0.681 | prob.neutral | None | None | None | None | N |
| S/N | 0.2982 | likely_benign | 0.3596 | ambiguous | -0.399 | Destabilizing | 0.959 | D | 0.686 | prob.neutral | N | 0.519476958 | None | None | N |
| S/P | 0.9214 | likely_pathogenic | 0.959 | pathogenic | 0.422 | Stabilizing | 0.991 | D | 0.705 | prob.neutral | None | None | None | None | N |
| S/Q | 0.6738 | likely_pathogenic | 0.7124 | pathogenic | 0.05 | Stabilizing | 0.997 | D | 0.683 | prob.neutral | None | None | None | None | N |
| S/R | 0.8009 | likely_pathogenic | 0.8519 | pathogenic | -0.121 | Destabilizing | 0.988 | D | 0.701 | prob.neutral | N | 0.507027736 | None | None | N |
| S/T | 0.1203 | likely_benign | 0.1315 | benign | 0.065 | Stabilizing | 0.061 | N | 0.299 | neutral | N | 0.429313527 | None | None | N |
| S/V | 0.3039 | likely_benign | 0.3442 | ambiguous | 0.422 | Stabilizing | 0.939 | D | 0.67 | neutral | None | None | None | None | N |
| S/W | 0.4939 | ambiguous | 0.5305 | ambiguous | -0.673 | Destabilizing | 0.999 | D | 0.744 | deleterious | None | None | None | None | N |
| S/Y | 0.2341 | likely_benign | 0.2592 | benign | -0.079 | Destabilizing | 0.997 | D | 0.68 | 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.