Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28939 | 87040;87041;87042 | chr2:178559317;178559316;178559315 | chr2:179424044;179424043;179424042 |
| N2AB | 27298 | 82117;82118;82119 | chr2:178559317;178559316;178559315 | chr2:179424044;179424043;179424042 |
| N2A | 26371 | 79336;79337;79338 | chr2:178559317;178559316;178559315 | chr2:179424044;179424043;179424042 |
| N2B | 19874 | 59845;59846;59847 | chr2:178559317;178559316;178559315 | chr2:179424044;179424043;179424042 |
| Novex-1 | 19999 | 60220;60221;60222 | chr2:178559317;178559316;178559315 | chr2:179424044;179424043;179424042 |
| Novex-2 | 20066 | 60421;60422;60423 | chr2:178559317;178559316;178559315 | chr2:179424044;179424043;179424042 |
| 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/M | rs1339393161  |
-2.237 | 0.999 | N | 0.589 | 0.138 | 0.305086939656 | gnomAD-2.1.1 | 4.33E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.36E-06 | 0 |
| I/M | rs1339393161 |
-2.237 | 0.999 | N | 0.589 | 0.138 | 0.305086939656 | gnomAD-4.0.0 | 5.57963E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.37588E-06 | 0 | 1.69273E-05 |
| I/T | None | None | 0.976 | N | 0.667 | 0.224 | 0.536287059136 | gnomAD-4.0.0 | 1.66328E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.53252E-05 | 0 |
| I/V | None | None | 0.881 | N | 0.419 | 0.116 | 0.37762505005 | gnomAD-4.0.0 | 1.20052E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66435E-05 |
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 | 0.6451 | likely_pathogenic | 0.6677 | pathogenic | -2.937 | Highly Destabilizing | 0.422 | N | 0.481 | neutral | None | None | None | None | N |
| I/C | 0.883 | likely_pathogenic | 0.8929 | pathogenic | -2.546 | Highly Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| I/D | 0.9942 | likely_pathogenic | 0.9953 | pathogenic | -3.513 | Highly Destabilizing | 0.997 | D | 0.797 | deleterious | None | None | None | None | N |
| I/E | 0.9896 | likely_pathogenic | 0.9914 | pathogenic | -3.291 | Highly Destabilizing | 0.997 | D | 0.777 | deleterious | None | None | None | None | N |
| I/F | 0.6593 | likely_pathogenic | 0.6455 | pathogenic | -1.711 | Destabilizing | 0.999 | D | 0.665 | prob.neutral | None | None | None | None | N |
| I/G | 0.9632 | likely_pathogenic | 0.9659 | pathogenic | -3.451 | Highly Destabilizing | 0.995 | D | 0.786 | deleterious | None | None | None | None | N |
| I/H | 0.989 | likely_pathogenic | 0.9906 | pathogenic | -2.73 | Highly Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| I/K | 0.9831 | likely_pathogenic | 0.9857 | pathogenic | -2.251 | Highly Destabilizing | 0.997 | D | 0.784 | deleterious | N | 0.50152505 | None | None | N |
| I/L | 0.3197 | likely_benign | 0.3159 | benign | -1.434 | Destabilizing | 0.944 | D | 0.449 | neutral | N | 0.478626761 | None | None | N |
| I/M | 0.1962 | likely_benign | 0.1983 | benign | -1.681 | Destabilizing | 0.999 | D | 0.589 | neutral | N | 0.466836473 | None | None | N |
| I/N | 0.8858 | likely_pathogenic | 0.9045 | pathogenic | -2.665 | Highly Destabilizing | 0.999 | D | 0.789 | deleterious | None | None | None | None | N |
| I/P | 0.9385 | likely_pathogenic | 0.9509 | pathogenic | -1.92 | Destabilizing | 0.997 | D | 0.791 | deleterious | None | None | None | None | N |
| I/Q | 0.9792 | likely_pathogenic | 0.9822 | pathogenic | -2.548 | Highly Destabilizing | 0.999 | D | 0.782 | deleterious | None | None | None | None | N |
| I/R | 0.9732 | likely_pathogenic | 0.9765 | pathogenic | -1.893 | Destabilizing | 0.997 | D | 0.782 | deleterious | N | 0.471387876 | None | None | N |
| I/S | 0.8313 | likely_pathogenic | 0.8501 | pathogenic | -3.318 | Highly Destabilizing | 0.965 | D | 0.707 | prob.delet. | None | None | None | None | N |
| I/T | 0.8204 | likely_pathogenic | 0.7875 | pathogenic | -2.959 | Highly Destabilizing | 0.976 | D | 0.667 | prob.neutral | N | 0.453560532 | None | None | N |
| I/V | 0.1103 | likely_benign | 0.1089 | benign | -1.92 | Destabilizing | 0.881 | D | 0.419 | neutral | N | 0.414060781 | None | None | N |
| I/W | 0.9909 | likely_pathogenic | 0.9913 | pathogenic | -2.04 | Highly Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| I/Y | 0.9603 | likely_pathogenic | 0.9661 | pathogenic | -1.863 | Destabilizing | 0.999 | D | 0.652 | 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.