Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30494 | 91705;91706;91707 | chr2:178551051;178551050;178551049 | chr2:179415778;179415777;179415776 |
| N2AB | 28853 | 86782;86783;86784 | chr2:178551051;178551050;178551049 | chr2:179415778;179415777;179415776 |
| N2A | 27926 | 84001;84002;84003 | chr2:178551051;178551050;178551049 | chr2:179415778;179415777;179415776 |
| N2B | 21429 | 64510;64511;64512 | chr2:178551051;178551050;178551049 | chr2:179415778;179415777;179415776 |
| Novex-1 | 21554 | 64885;64886;64887 | chr2:178551051;178551050;178551049 | chr2:179415778;179415777;179415776 |
| Novex-2 | 21621 | 65086;65087;65088 | chr2:178551051;178551050;178551049 | chr2:179415778;179415777;179415776 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | None | None | 0.999 | N | 0.683 | 0.54 | 0.551961605406 | gnomAD-4.0.0 | 1.59241E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85977E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9979 | likely_pathogenic | 0.9986 | pathogenic | -2.547 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| F/C | 0.9756 | likely_pathogenic | 0.984 | pathogenic | -1.399 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.556025299 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.513 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.257 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| F/G | 0.9978 | likely_pathogenic | 0.9985 | pathogenic | -3.025 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| F/H | 0.996 | likely_pathogenic | 0.9971 | pathogenic | -2.248 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| F/I | 0.9492 | likely_pathogenic | 0.9563 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.769 | deleterious | N | 0.497452438 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.14 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/L | 0.9944 | likely_pathogenic | 0.9951 | pathogenic | -0.967 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | N | 0.508265765 | None | None | N |
| F/M | 0.9728 | likely_pathogenic | 0.9757 | pathogenic | -0.708 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| F/N | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -2.897 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 1.0 | pathogenic | -1.511 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| F/Q | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -2.639 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| F/R | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -2.087 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| F/S | 0.9983 | likely_pathogenic | 0.999 | pathogenic | -3.288 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.556025299 | None | None | N |
| F/T | 0.9985 | likely_pathogenic | 0.999 | pathogenic | -2.899 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| F/V | 0.9521 | likely_pathogenic | 0.9619 | pathogenic | -1.511 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.495789689 | None | None | N |
| F/W | 0.9481 | likely_pathogenic | 0.9608 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| F/Y | 0.5298 | ambiguous | 0.5702 | pathogenic | -0.853 | Destabilizing | 0.999 | D | 0.606 | neutral | N | 0.500445087 | 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.