Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21500 | 64723;64724;64725 | chr2:178585246;178585245;178585244 | chr2:179449973;179449972;179449971 |
| N2AB | 19859 | 59800;59801;59802 | chr2:178585246;178585245;178585244 | chr2:179449973;179449972;179449971 |
| N2A | 18932 | 57019;57020;57021 | chr2:178585246;178585245;178585244 | chr2:179449973;179449972;179449971 |
| N2B | 12435 | 37528;37529;37530 | chr2:178585246;178585245;178585244 | chr2:179449973;179449972;179449971 |
| Novex-1 | 12560 | 37903;37904;37905 | chr2:178585246;178585245;178585244 | chr2:179449973;179449972;179449971 |
| Novex-2 | 12627 | 38104;38105;38106 | chr2:178585246;178585245;178585244 | chr2:179449973;179449972;179449971 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs2048669165  |
None | 1.0 | D | 0.891 | 0.93 | 0.936542578583 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07727E-04 | 0 |
| W/R | rs2048669165 |
None | 1.0 | D | 0.891 | 0.93 | 0.936542578583 | gnomAD-4.0.0 | 6.58831E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07727E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -2.809 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| W/C | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -1.823 | Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.675902188 | None | None | N |
| W/D | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.531 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| W/E | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -2.399 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| W/F | 0.741 | likely_pathogenic | 0.7117 | pathogenic | -1.638 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/G | 0.9889 | likely_pathogenic | 0.9908 | pathogenic | -3.065 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.691951909 | None | None | N |
| W/H | 0.998 | likely_pathogenic | 0.998 | pathogenic | -1.914 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| W/I | 0.9756 | likely_pathogenic | 0.9747 | pathogenic | -1.859 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.299 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/L | 0.9521 | likely_pathogenic | 0.9489 | pathogenic | -1.859 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.691951909 | None | None | N |
| W/M | 0.9906 | likely_pathogenic | 0.9899 | pathogenic | -1.503 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| W/N | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.964 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/P | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.202 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.738 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.107 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.692153713 | None | None | N |
| W/S | 0.9979 | likely_pathogenic | 0.9982 | pathogenic | -3.258 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.692153713 | None | None | N |
| W/T | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -3.062 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/V | 0.9888 | likely_pathogenic | 0.9889 | pathogenic | -2.202 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| W/Y | 0.9237 | likely_pathogenic | 0.9143 | pathogenic | -1.473 | Destabilizing | 1.0 | D | 0.801 | 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.