Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16386 | 49381;49382;49383 | chr2:178614241;178614240;178614239 | chr2:179478968;179478967;179478966 |
| N2AB | 14745 | 44458;44459;44460 | chr2:178614241;178614240;178614239 | chr2:179478968;179478967;179478966 |
| N2A | 13818 | 41677;41678;41679 | chr2:178614241;178614240;178614239 | chr2:179478968;179478967;179478966 |
| N2B | 7321 | 22186;22187;22188 | chr2:178614241;178614240;178614239 | chr2:179478968;179478967;179478966 |
| Novex-1 | 7446 | 22561;22562;22563 | chr2:178614241;178614240;178614239 | chr2:179478968;179478967;179478966 |
| Novex-2 | 7513 | 22762;22763;22764 | chr2:178614241;178614240;178614239 | chr2:179478968;179478967;179478966 |
| 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 | rs190721620  |
-2.033 | 1.0 | D | 0.853 | 0.832 | None | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.65E-05 | None | 0 | None | 0 | 8.94E-06 | 0 |
| Y/C | rs190721620 |
-2.033 | 1.0 | D | 0.853 | 0.832 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.95542E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Y/C | rs190721620 |
-2.033 | 1.0 | D | 0.853 | 0.832 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| Y/C | rs190721620 |
-2.033 | 1.0 | D | 0.853 | 0.832 | None | gnomAD-4.0.0 | 6.82135E-06 | None | None | None | None | N | None | 1.33483E-05 | 0 | None | 0 | 2.24396E-05 | None | 0 | 0 | 6.78395E-06 | 0 | 1.60262E-05 |
| Y/H | rs754631165 |
-2.81 | 1.0 | D | 0.8 | 0.859 | 0.732098058403 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| Y/H | rs754631165 |
-2.81 | 1.0 | D | 0.8 | 0.859 | 0.732098058403 | gnomAD-4.0.0 | 1.59358E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86148E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9985 | likely_pathogenic | 0.9982 | pathogenic | -3.729 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| Y/C | 0.9692 | likely_pathogenic | 0.9646 | pathogenic | -2.243 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.861730116 | None | None | N |
| Y/D | 0.9985 | likely_pathogenic | 0.9978 | pathogenic | -3.998 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.860692589 | None | None | N |
| Y/E | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -3.786 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| Y/F | 0.3288 | likely_benign | 0.3466 | ambiguous | -1.491 | Destabilizing | 0.999 | D | 0.675 | neutral | D | 0.650120961 | None | None | N |
| Y/G | 0.9956 | likely_pathogenic | 0.9949 | pathogenic | -4.129 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/H | 0.9901 | likely_pathogenic | 0.987 | pathogenic | -2.775 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.829109833 | None | None | N |
| Y/I | 0.9874 | likely_pathogenic | 0.9848 | pathogenic | -2.364 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| Y/K | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -2.644 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| Y/L | 0.9722 | likely_pathogenic | 0.967 | pathogenic | -2.364 | Highly Destabilizing | 0.999 | D | 0.751 | deleterious | None | None | None | None | N |
| Y/M | 0.993 | likely_pathogenic | 0.9917 | pathogenic | -2.132 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| Y/N | 0.9918 | likely_pathogenic | 0.9881 | pathogenic | -3.423 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.860692589 | None | None | N |
| Y/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.84 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| Y/Q | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -3.169 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| Y/R | 0.9974 | likely_pathogenic | 0.9964 | pathogenic | -2.346 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| Y/S | 0.9949 | likely_pathogenic | 0.9935 | pathogenic | -3.741 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.860692589 | None | None | N |
| Y/T | 0.9976 | likely_pathogenic | 0.9969 | pathogenic | -3.413 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| Y/V | 0.9755 | likely_pathogenic | 0.972 | pathogenic | -2.84 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| Y/W | 0.9226 | likely_pathogenic | 0.9214 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.792 | 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.