Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16358 | 49297;49298;49299 | chr2:178614325;178614324;178614323 | chr2:179479052;179479051;179479050 |
| N2AB | 14717 | 44374;44375;44376 | chr2:178614325;178614324;178614323 | chr2:179479052;179479051;179479050 |
| N2A | 13790 | 41593;41594;41595 | chr2:178614325;178614324;178614323 | chr2:179479052;179479051;179479050 |
| N2B | 7293 | 22102;22103;22104 | chr2:178614325;178614324;178614323 | chr2:179479052;179479051;179479050 |
| Novex-1 | 7418 | 22477;22478;22479 | chr2:178614325;178614324;178614323 | chr2:179479052;179479051;179479050 |
| Novex-2 | 7485 | 22678;22679;22680 | chr2:178614325;178614324;178614323 | chr2:179479052;179479051;179479050 |
| 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 | rs2056894015  |
None | 0.014 | N | 0.379 | 0.254 | 0.186928172975 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs2056894015 |
None | 0.014 | N | 0.379 | 0.254 | 0.186928172975 | gnomAD-4.0.0 | 6.58155E-06 | None | None | None | None | N | None | 2.41359E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/S | rs556089848 |
-3.272 | 0.971 | N | 0.804 | 0.501 | 0.638501922959 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.82E-05 | None | 0 | 0 | 0 |
| F/S | rs556089848 |
-3.272 | 0.971 | N | 0.804 | 0.501 | 0.638501922959 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| F/S | rs556089848 |
-3.272 | 0.971 | N | 0.804 | 0.501 | 0.638501922959 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| F/S | rs556089848 |
-3.272 | 0.971 | N | 0.804 | 0.501 | 0.638501922959 | gnomAD-4.0.0 | 6.41346E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.70619E-05 | 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 | 0.9761 | likely_pathogenic | 0.9779 | pathogenic | -2.557 | Highly Destabilizing | 0.86 | D | 0.765 | deleterious | None | None | None | None | N |
| F/C | 0.8802 | likely_pathogenic | 0.8824 | pathogenic | -1.505 | Destabilizing | 0.997 | D | 0.784 | deleterious | N | 0.473193039 | None | None | N |
| F/D | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -3.231 | Highly Destabilizing | 0.993 | D | 0.837 | deleterious | None | None | None | None | N |
| F/E | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -3.007 | Highly Destabilizing | 0.978 | D | 0.827 | deleterious | None | None | None | None | N |
| F/G | 0.9954 | likely_pathogenic | 0.9955 | pathogenic | -3.013 | Highly Destabilizing | 0.978 | D | 0.82 | deleterious | None | None | None | None | N |
| F/H | 0.9951 | likely_pathogenic | 0.9948 | pathogenic | -1.755 | Destabilizing | 0.998 | D | 0.735 | prob.delet. | None | None | None | None | N |
| F/I | 0.5155 | ambiguous | 0.5016 | ambiguous | -1.066 | Destabilizing | 0.698 | D | 0.731 | prob.delet. | N | 0.432147739 | None | None | N |
| F/K | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -1.841 | Destabilizing | 0.978 | D | 0.828 | deleterious | None | None | None | None | N |
| F/L | 0.9176 | likely_pathogenic | 0.9271 | pathogenic | -1.066 | Destabilizing | 0.014 | N | 0.379 | neutral | N | 0.350764286 | None | None | N |
| F/M | 0.7914 | likely_pathogenic | 0.7879 | pathogenic | -0.846 | Destabilizing | 0.956 | D | 0.733 | prob.delet. | None | None | None | None | N |
| F/N | 0.996 | likely_pathogenic | 0.9955 | pathogenic | -2.402 | Highly Destabilizing | 0.993 | D | 0.827 | deleterious | None | None | None | None | N |
| F/P | 0.9969 | likely_pathogenic | 0.9974 | pathogenic | -1.576 | Destabilizing | 0.993 | D | 0.833 | deleterious | None | None | None | None | N |
| F/Q | 0.9981 | likely_pathogenic | 0.9979 | pathogenic | -2.295 | Highly Destabilizing | 0.993 | D | 0.833 | deleterious | None | None | None | None | N |
| F/R | 0.997 | likely_pathogenic | 0.997 | pathogenic | -1.538 | Destabilizing | 0.978 | D | 0.827 | deleterious | None | None | None | None | N |
| F/S | 0.9898 | likely_pathogenic | 0.9897 | pathogenic | -2.953 | Highly Destabilizing | 0.971 | D | 0.804 | deleterious | N | 0.521218966 | None | None | N |
| F/T | 0.9704 | likely_pathogenic | 0.97 | pathogenic | -2.612 | Highly Destabilizing | 0.956 | D | 0.784 | deleterious | None | None | None | None | N |
| F/V | 0.5299 | ambiguous | 0.5322 | ambiguous | -1.576 | Destabilizing | 0.698 | D | 0.717 | prob.delet. | N | 0.384042085 | None | None | N |
| F/W | 0.9261 | likely_pathogenic | 0.9189 | pathogenic | -0.152 | Destabilizing | 0.998 | D | 0.709 | prob.delet. | None | None | None | None | N |
| F/Y | 0.7623 | likely_pathogenic | 0.7571 | pathogenic | -0.53 | Destabilizing | 0.904 | D | 0.704 | prob.neutral | N | 0.483032059 | 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.