Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35494 | 106705;106706;106707 | chr2:178530011;178530010;178530009 | chr2:179394738;179394737;179394736 |
| N2AB | 33853 | 101782;101783;101784 | chr2:178530011;178530010;178530009 | chr2:179394738;179394737;179394736 |
| N2A | 32926 | 99001;99002;99003 | chr2:178530011;178530010;178530009 | chr2:179394738;179394737;179394736 |
| N2B | 26429 | 79510;79511;79512 | chr2:178530011;178530010;178530009 | chr2:179394738;179394737;179394736 |
| Novex-1 | 26554 | 79885;79886;79887 | chr2:178530011;178530010;178530009 | chr2:179394738;179394737;179394736 |
| Novex-2 | 26621 | 80086;80087;80088 | chr2:178530011;178530010;178530009 | chr2:179394738;179394737;179394736 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs988261167  |
None | None | N | 0.297 | 0.227 | 0.309839678437 | gnomAD-4.0.0 | 1.61438E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87421E-06 | 0 | 0 |
| V/I | rs1310141973 |
-1.012 | None | N | 0.23 | 0.151 | 0.165133752707 | gnomAD-2.1.1 | 4.16E-06 | None | None | None | None | N | None | 0 | 3.13E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs1310141973 |
-1.012 | None | N | 0.23 | 0.151 | 0.165133752707 | gnomAD-4.0.0 | 1.61355E-06 | None | None | None | None | N | None | 0 | 2.43084E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4127 | ambiguous | 0.3994 | ambiguous | -2.22 | Highly Destabilizing | None | N | 0.297 | neutral | N | 0.359293294 | None | None | N |
| V/C | 0.9086 | likely_pathogenic | 0.894 | pathogenic | -2.083 | Highly Destabilizing | 0.596 | D | 0.785 | deleterious | None | None | None | None | N |
| V/D | 0.9709 | likely_pathogenic | 0.9628 | pathogenic | -2.908 | Highly Destabilizing | 0.326 | N | 0.805 | deleterious | None | None | None | None | N |
| V/E | 0.9225 | likely_pathogenic | 0.9156 | pathogenic | -2.722 | Highly Destabilizing | 0.094 | N | 0.754 | deleterious | N | 0.518949822 | None | None | N |
| V/F | 0.3554 | ambiguous | 0.3434 | ambiguous | -1.306 | Destabilizing | 0.193 | N | 0.774 | deleterious | None | None | None | None | N |
| V/G | 0.7003 | likely_pathogenic | 0.6911 | pathogenic | -2.715 | Highly Destabilizing | 0.025 | N | 0.755 | deleterious | D | 0.527851299 | None | None | N |
| V/H | 0.9788 | likely_pathogenic | 0.9741 | pathogenic | -2.292 | Highly Destabilizing | 0.848 | D | 0.82 | deleterious | None | None | None | None | N |
| V/I | 0.0722 | likely_benign | 0.0685 | benign | -0.845 | Destabilizing | None | N | 0.23 | neutral | N | 0.507531955 | None | None | N |
| V/K | 0.9613 | likely_pathogenic | 0.9552 | pathogenic | -1.768 | Destabilizing | 0.064 | N | 0.747 | deleterious | None | None | None | None | N |
| V/L | 0.1958 | likely_benign | 0.1898 | benign | -0.845 | Destabilizing | None | N | 0.287 | neutral | D | 0.52402156 | None | None | N |
| V/M | 0.2179 | likely_benign | 0.2149 | benign | -1.099 | Destabilizing | 0.193 | N | 0.685 | prob.neutral | None | None | None | None | N |
| V/N | 0.9222 | likely_pathogenic | 0.8983 | pathogenic | -2.066 | Highly Destabilizing | 0.596 | D | 0.823 | deleterious | None | None | None | None | N |
| V/P | 0.9792 | likely_pathogenic | 0.9727 | pathogenic | -1.278 | Destabilizing | 0.326 | N | 0.794 | deleterious | None | None | None | None | N |
| V/Q | 0.9257 | likely_pathogenic | 0.9182 | pathogenic | -1.979 | Destabilizing | 0.596 | D | 0.807 | deleterious | None | None | None | None | N |
| V/R | 0.9299 | likely_pathogenic | 0.9186 | pathogenic | -1.537 | Destabilizing | 0.326 | N | 0.821 | deleterious | None | None | None | None | N |
| V/S | 0.7473 | likely_pathogenic | 0.7191 | pathogenic | -2.679 | Highly Destabilizing | 0.033 | N | 0.727 | prob.delet. | None | None | None | None | N |
| V/T | 0.5978 | likely_pathogenic | 0.5717 | pathogenic | -2.358 | Highly Destabilizing | 0.064 | N | 0.617 | neutral | None | None | None | None | N |
| V/W | 0.965 | likely_pathogenic | 0.961 | pathogenic | -1.728 | Destabilizing | 0.848 | D | 0.812 | deleterious | None | None | None | None | N |
| V/Y | 0.8919 | likely_pathogenic | 0.8761 | pathogenic | -1.424 | Destabilizing | 0.326 | N | 0.789 | 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.