Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18462 | 55609;55610;55611 | chr2:178601706;178601705;178601704 | chr2:179466433;179466432;179466431 |
| N2AB | 16821 | 50686;50687;50688 | chr2:178601706;178601705;178601704 | chr2:179466433;179466432;179466431 |
| N2A | 15894 | 47905;47906;47907 | chr2:178601706;178601705;178601704 | chr2:179466433;179466432;179466431 |
| N2B | 9397 | 28414;28415;28416 | chr2:178601706;178601705;178601704 | chr2:179466433;179466432;179466431 |
| Novex-1 | 9522 | 28789;28790;28791 | chr2:178601706;178601705;178601704 | chr2:179466433;179466432;179466431 |
| Novex-2 | 9589 | 28990;28991;28992 | chr2:178601706;178601705;178601704 | chr2:179466433;179466432;179466431 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/Q | rs747050691  |
-0.129 | 1.0 | N | 0.765 | 0.283 | 0.361958692863 | gnomAD-2.1.1 | 2.45E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 3.4118E-04 | None | 0 | None | 0 | 0 | 0 |
| K/Q | rs747050691 |
-0.129 | 1.0 | N | 0.765 | 0.283 | 0.361958692863 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| K/Q | rs747050691 |
-0.129 | 1.0 | N | 0.765 | 0.283 | 0.361958692863 | gnomAD-4.0.0 | 4.97053E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.11877E-04 | None | 0 | 0 | 0 | 2.22851E-05 | 1.60591E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5067 | ambiguous | 0.5225 | ambiguous | -0.315 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | I |
| K/C | 0.7315 | likely_pathogenic | 0.7402 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| K/D | 0.8043 | likely_pathogenic | 0.8408 | pathogenic | -0.011 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| K/E | 0.2616 | likely_benign | 0.2777 | benign | 0.007 | Stabilizing | 0.999 | D | 0.67 | neutral | N | 0.465237042 | None | None | I |
| K/F | 0.8567 | likely_pathogenic | 0.8718 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| K/G | 0.6756 | likely_pathogenic | 0.6989 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | I |
| K/H | 0.4575 | ambiguous | 0.4574 | ambiguous | -1.053 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| K/I | 0.4256 | ambiguous | 0.4479 | ambiguous | 0.25 | Stabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| K/L | 0.5433 | ambiguous | 0.5592 | ambiguous | 0.25 | Stabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | I |
| K/M | 0.3222 | likely_benign | 0.3346 | benign | 0.37 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.496572244 | None | None | I |
| K/N | 0.6489 | likely_pathogenic | 0.689 | pathogenic | 0.086 | Stabilizing | 1.0 | D | 0.765 | deleterious | N | 0.518591524 | None | None | I |
| K/P | 0.9779 | likely_pathogenic | 0.9841 | pathogenic | 0.09 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| K/Q | 0.172 | likely_benign | 0.1725 | benign | -0.212 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.514839143 | None | None | I |
| K/R | 0.0899 | likely_benign | 0.0884 | benign | -0.127 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.506407612 | None | None | I |
| K/S | 0.5507 | ambiguous | 0.5727 | pathogenic | -0.539 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | None | None | None | None | I |
| K/T | 0.2211 | likely_benign | 0.2392 | benign | -0.357 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.48368673 | None | None | I |
| K/V | 0.3511 | ambiguous | 0.3663 | ambiguous | 0.09 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| K/W | 0.8166 | likely_pathogenic | 0.8284 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| K/Y | 0.7595 | likely_pathogenic | 0.7743 | pathogenic | -0.084 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
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.