Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19757 | 59494;59495;59496 | chr2:178592850;178592849;178592848 | chr2:179457577;179457576;179457575 |
| N2AB | 18116 | 54571;54572;54573 | chr2:178592850;178592849;178592848 | chr2:179457577;179457576;179457575 |
| N2A | 17189 | 51790;51791;51792 | chr2:178592850;178592849;178592848 | chr2:179457577;179457576;179457575 |
| N2B | 10692 | 32299;32300;32301 | chr2:178592850;178592849;178592848 | chr2:179457577;179457576;179457575 |
| Novex-1 | 10817 | 32674;32675;32676 | chr2:178592850;178592849;178592848 | chr2:179457577;179457576;179457575 |
| Novex-2 | 10884 | 32875;32876;32877 | chr2:178592850;178592849;178592848 | chr2:179457577;179457576;179457575 |
| 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 | rs574316788  |
-2.938 | 0.928 | D | 0.706 | 0.578 | 0.644016888698 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs574316788 |
-2.938 | 0.928 | D | 0.706 | 0.578 | 0.644016888698 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.96747E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs574316788 |
-2.938 | 0.928 | D | 0.706 | 0.578 | 0.644016888698 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/A | rs574316788 |
-2.938 | 0.928 | D | 0.706 | 0.578 | 0.644016888698 | gnomAD-4.0.0 | 8.05774E-06 | None | None | None | None | N | None | 1.33419E-05 | 2.00093E-04 | 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 | 0.8982 | likely_pathogenic | 0.8825 | pathogenic | -2.702 | Highly Destabilizing | 0.928 | D | 0.706 | prob.neutral | D | 0.522031376 | None | None | N |
| V/C | 0.9467 | likely_pathogenic | 0.9447 | pathogenic | -2.24 | Highly Destabilizing | 0.999 | D | 0.837 | deleterious | None | None | None | None | N |
| V/D | 0.9978 | likely_pathogenic | 0.9977 | pathogenic | -3.695 | Highly Destabilizing | 0.997 | D | 0.895 | deleterious | None | None | None | None | N |
| V/E | 0.9947 | likely_pathogenic | 0.9944 | pathogenic | -3.41 | Highly Destabilizing | 0.996 | D | 0.891 | deleterious | D | 0.62971583 | None | None | N |
| V/F | 0.8814 | likely_pathogenic | 0.8343 | pathogenic | -1.526 | Destabilizing | 0.983 | D | 0.853 | deleterious | None | None | None | None | N |
| V/G | 0.9399 | likely_pathogenic | 0.9319 | pathogenic | -3.246 | Highly Destabilizing | 0.989 | D | 0.89 | deleterious | D | 0.62971583 | None | None | N |
| V/H | 0.9981 | likely_pathogenic | 0.9976 | pathogenic | -2.997 | Highly Destabilizing | 0.999 | D | 0.883 | deleterious | None | None | None | None | N |
| V/I | 0.0929 | likely_benign | 0.0839 | benign | -1.109 | Destabilizing | 0.05 | N | 0.33 | neutral | None | None | None | None | N |
| V/K | 0.9959 | likely_pathogenic | 0.9954 | pathogenic | -2.396 | Highly Destabilizing | 0.992 | D | 0.891 | deleterious | None | None | None | None | N |
| V/L | 0.6583 | likely_pathogenic | 0.5956 | pathogenic | -1.109 | Destabilizing | 0.476 | N | 0.663 | neutral | N | 0.506619238 | None | None | N |
| V/M | 0.7887 | likely_pathogenic | 0.7391 | pathogenic | -1.333 | Destabilizing | 0.978 | D | 0.807 | deleterious | D | 0.53002032 | None | None | N |
| V/N | 0.9914 | likely_pathogenic | 0.9912 | pathogenic | -2.986 | Highly Destabilizing | 0.997 | D | 0.907 | deleterious | None | None | None | None | N |
| V/P | 0.9942 | likely_pathogenic | 0.9941 | pathogenic | -1.625 | Destabilizing | 0.997 | D | 0.903 | deleterious | None | None | None | None | N |
| V/Q | 0.994 | likely_pathogenic | 0.9931 | pathogenic | -2.7 | Highly Destabilizing | 0.997 | D | 0.909 | deleterious | None | None | None | None | N |
| V/R | 0.9911 | likely_pathogenic | 0.9903 | pathogenic | -2.266 | Highly Destabilizing | 0.997 | D | 0.908 | deleterious | None | None | None | None | N |
| V/S | 0.9699 | likely_pathogenic | 0.9682 | pathogenic | -3.477 | Highly Destabilizing | 0.992 | D | 0.895 | deleterious | None | None | None | None | N |
| V/T | 0.9352 | likely_pathogenic | 0.9346 | pathogenic | -3.061 | Highly Destabilizing | 0.944 | D | 0.755 | deleterious | None | None | None | None | N |
| V/W | 0.9982 | likely_pathogenic | 0.9973 | pathogenic | -2.112 | Highly Destabilizing | 0.999 | D | 0.874 | deleterious | None | None | None | None | N |
| V/Y | 0.9901 | likely_pathogenic | 0.9871 | pathogenic | -1.875 | Destabilizing | 0.992 | D | 0.858 | 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.