Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23470 | 70633;70634;70635 | chr2:178575724;178575723;178575722 | chr2:179440451;179440450;179440449 |
| N2AB | 21829 | 65710;65711;65712 | chr2:178575724;178575723;178575722 | chr2:179440451;179440450;179440449 |
| N2A | 20902 | 62929;62930;62931 | chr2:178575724;178575723;178575722 | chr2:179440451;179440450;179440449 |
| N2B | 14405 | 43438;43439;43440 | chr2:178575724;178575723;178575722 | chr2:179440451;179440450;179440449 |
| Novex-1 | 14530 | 43813;43814;43815 | chr2:178575724;178575723;178575722 | chr2:179440451;179440450;179440449 |
| Novex-2 | 14597 | 44014;44015;44016 | chr2:178575724;178575723;178575722 | chr2:179440451;179440450;179440449 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs750891099  |
-2.243 | 1.0 | D | 0.877 | 0.858 | 0.858315805586 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| Y/C | rs750891099 |
-2.243 | 1.0 | D | 0.877 | 0.858 | 0.858315805586 | gnomAD-4.0.0 | 1.84762E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.33884E-05 | 0 | 1.65695E-05 |
| Y/D | rs753051564 |
-4.126 | 1.0 | D | 0.909 | 0.857 | 0.937448696552 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/D | rs753051564 |
-4.126 | 1.0 | D | 0.909 | 0.857 | 0.937448696552 | gnomAD-4.0.0 | 1.59176E-06 | None | None | None | None | N | None | 0 | 2.28676E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9977 | likely_pathogenic | 0.9983 | pathogenic | -3.26 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| Y/C | 0.9529 | likely_pathogenic | 0.9575 | pathogenic | -2.162 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.666496055 | None | None | N |
| Y/D | 0.998 | likely_pathogenic | 0.9988 | pathogenic | -3.714 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.666899664 | None | None | N |
| Y/E | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -3.507 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| Y/F | 0.2136 | likely_benign | 0.2207 | benign | -1.212 | Destabilizing | 0.999 | D | 0.649 | neutral | D | 0.570583489 | None | None | N |
| Y/G | 0.9936 | likely_pathogenic | 0.9954 | pathogenic | -3.69 | Highly Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| Y/H | 0.9828 | likely_pathogenic | 0.9869 | pathogenic | -2.308 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.634225169 | None | None | N |
| Y/I | 0.9781 | likely_pathogenic | 0.9802 | pathogenic | -1.823 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| Y/K | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.446 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| Y/L | 0.9548 | likely_pathogenic | 0.9563 | pathogenic | -1.823 | Destabilizing | 0.998 | D | 0.748 | deleterious | None | None | None | None | N |
| Y/M | 0.9879 | likely_pathogenic | 0.9879 | pathogenic | -1.626 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| Y/N | 0.985 | likely_pathogenic | 0.9902 | pathogenic | -3.275 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.666899664 | None | None | N |
| Y/P | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -2.319 | Highly Destabilizing | 1.0 | D | 0.935 | deleterious | None | None | None | None | N |
| Y/Q | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -3.014 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| Y/R | 0.9969 | likely_pathogenic | 0.9975 | pathogenic | -2.179 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| Y/S | 0.992 | likely_pathogenic | 0.9947 | pathogenic | -3.628 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.666899664 | None | None | N |
| Y/T | 0.9965 | likely_pathogenic | 0.9974 | pathogenic | -3.295 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| Y/V | 0.9636 | likely_pathogenic | 0.9646 | pathogenic | -2.319 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| Y/W | 0.9004 | likely_pathogenic | 0.9123 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.783 | 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.