Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30771 | 92536;92537;92538 | chr2:178549315;178549314;178549313 | chr2:179414042;179414041;179414040 |
| N2AB | 29130 | 87613;87614;87615 | chr2:178549315;178549314;178549313 | chr2:179414042;179414041;179414040 |
| N2A | 28203 | 84832;84833;84834 | chr2:178549315;178549314;178549313 | chr2:179414042;179414041;179414040 |
| N2B | 21706 | 65341;65342;65343 | chr2:178549315;178549314;178549313 | chr2:179414042;179414041;179414040 |
| Novex-1 | 21831 | 65716;65717;65718 | chr2:178549315;178549314;178549313 | chr2:179414042;179414041;179414040 |
| Novex-2 | 21898 | 65917;65918;65919 | chr2:178549315;178549314;178549313 | chr2:179414042;179414041;179414040 |
| 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/G | rs565582571  |
-0.255 | 0.565 | N | 0.395 | 0.107 | 0.187945064343 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 2.2941E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/G | rs565582571 |
-0.255 | 0.565 | N | 0.395 | 0.107 | 0.187945064343 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/G | rs565582571 |
-0.255 | 0.565 | N | 0.395 | 0.107 | 0.187945064343 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| S/G | rs565582571 |
-0.255 | 0.565 | N | 0.395 | 0.107 | 0.187945064343 | gnomAD-4.0.0 | 4.05911E-06 | None | None | None | None | N | None | 6.97204E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | None | None | 0.018 | N | 0.239 | 0.173 | 0.119812018005 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.0979 | likely_benign | 0.1007 | benign | -0.285 | Destabilizing | 0.044 | N | 0.153 | neutral | None | None | None | None | N |
| S/C | 0.1453 | likely_benign | 0.1367 | benign | -0.45 | Destabilizing | 0.995 | D | 0.471 | neutral | N | 0.48100357 | None | None | N |
| S/D | 0.7461 | likely_pathogenic | 0.6901 | pathogenic | 0.365 | Stabilizing | 0.875 | D | 0.39 | neutral | None | None | None | None | N |
| S/E | 0.8305 | likely_pathogenic | 0.7893 | pathogenic | 0.32 | Stabilizing | 0.775 | D | 0.384 | neutral | None | None | None | None | N |
| S/F | 0.4922 | ambiguous | 0.466 | ambiguous | -0.911 | Destabilizing | 0.987 | D | 0.569 | neutral | None | None | None | None | N |
| S/G | 0.1027 | likely_benign | 0.0992 | benign | -0.399 | Destabilizing | 0.565 | D | 0.395 | neutral | N | 0.489158759 | None | None | N |
| S/H | 0.5994 | likely_pathogenic | 0.5384 | ambiguous | -0.623 | Destabilizing | 0.989 | D | 0.453 | neutral | None | None | None | None | N |
| S/I | 0.4124 | ambiguous | 0.3674 | ambiguous | -0.107 | Destabilizing | 0.949 | D | 0.555 | neutral | N | 0.468553947 | None | None | N |
| S/K | 0.8917 | likely_pathogenic | 0.8729 | pathogenic | -0.234 | Destabilizing | 0.633 | D | 0.375 | neutral | None | None | None | None | N |
| S/L | 0.1939 | likely_benign | 0.1966 | benign | -0.107 | Destabilizing | 0.775 | D | 0.453 | neutral | None | None | None | None | N |
| S/M | 0.3655 | ambiguous | 0.3497 | ambiguous | -0.372 | Destabilizing | 0.996 | D | 0.455 | neutral | None | None | None | None | N |
| S/N | 0.2543 | likely_benign | 0.2279 | benign | -0.165 | Destabilizing | 0.722 | D | 0.427 | neutral | N | 0.361693307 | None | None | N |
| S/P | 0.2844 | likely_benign | 0.2628 | benign | -0.139 | Destabilizing | 0.961 | D | 0.435 | neutral | None | None | None | None | N |
| S/Q | 0.7008 | likely_pathogenic | 0.6565 | pathogenic | -0.243 | Destabilizing | 0.923 | D | 0.398 | neutral | None | None | None | None | N |
| S/R | 0.8502 | likely_pathogenic | 0.8201 | pathogenic | -0.074 | Destabilizing | 0.018 | N | 0.239 | neutral | N | 0.511014112 | None | None | N |
| S/T | 0.1069 | likely_benign | 0.1116 | benign | -0.217 | Destabilizing | 0.722 | D | 0.399 | neutral | N | 0.429667739 | None | None | N |
| S/V | 0.33 | likely_benign | 0.3094 | benign | -0.139 | Destabilizing | 0.923 | D | 0.474 | neutral | None | None | None | None | N |
| S/W | 0.5773 | likely_pathogenic | 0.54 | ambiguous | -1.028 | Destabilizing | 0.996 | D | 0.666 | neutral | None | None | None | None | N |
| S/Y | 0.4127 | ambiguous | 0.37 | ambiguous | -0.675 | Destabilizing | 0.987 | D | 0.565 | 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.