Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24115 | 72568;72569;72570 | chr2:178573789;178573788;178573787 | chr2:179438516;179438515;179438514 |
| N2AB | 22474 | 67645;67646;67647 | chr2:178573789;178573788;178573787 | chr2:179438516;179438515;179438514 |
| N2A | 21547 | 64864;64865;64866 | chr2:178573789;178573788;178573787 | chr2:179438516;179438515;179438514 |
| N2B | 15050 | 45373;45374;45375 | chr2:178573789;178573788;178573787 | chr2:179438516;179438515;179438514 |
| Novex-1 | 15175 | 45748;45749;45750 | chr2:178573789;178573788;178573787 | chr2:179438516;179438515;179438514 |
| Novex-2 | 15242 | 45949;45950;45951 | chr2:178573789;178573788;178573787 | chr2:179438516;179438515;179438514 |
| 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/C | rs1709094367  |
None | 1.0 | N | 0.801 | 0.522 | 0.765792700882 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/C | rs1709094367 |
None | 1.0 | N | 0.801 | 0.522 | 0.765792700882 | gnomAD-4.0.0 | 2.57495E-06 | None | None | None | None | N | None | 1.69589E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40482E-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 | 0.971 | likely_pathogenic | 0.9741 | pathogenic | -2.109 | Highly Destabilizing | 0.996 | D | 0.744 | deleterious | None | None | None | None | N |
| F/C | 0.6503 | likely_pathogenic | 0.7278 | pathogenic | -1.399 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.497002743 | None | None | N |
| F/D | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -3.212 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| F/E | 0.9985 | likely_pathogenic | 0.9978 | pathogenic | -2.969 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| F/G | 0.9919 | likely_pathogenic | 0.9912 | pathogenic | -2.558 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| F/H | 0.9805 | likely_pathogenic | 0.9754 | pathogenic | -1.904 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| F/I | 0.435 | ambiguous | 0.5086 | ambiguous | -0.634 | Destabilizing | 0.998 | D | 0.667 | neutral | N | 0.427852089 | None | None | N |
| F/K | 0.9977 | likely_pathogenic | 0.9964 | pathogenic | -2.027 | Highly Destabilizing | 0.999 | D | 0.83 | deleterious | None | None | None | None | N |
| F/L | 0.9434 | likely_pathogenic | 0.9599 | pathogenic | -0.634 | Destabilizing | 0.989 | D | 0.54 | neutral | N | 0.502424419 | None | None | N |
| F/M | 0.8328 | likely_pathogenic | 0.8518 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| F/N | 0.9953 | likely_pathogenic | 0.9942 | pathogenic | -2.758 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/P | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| F/Q | 0.9952 | likely_pathogenic | 0.9931 | pathogenic | -2.473 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| F/R | 0.993 | likely_pathogenic | 0.9902 | pathogenic | -2.096 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| F/S | 0.9811 | likely_pathogenic | 0.9807 | pathogenic | -3.133 | Highly Destabilizing | 0.998 | D | 0.785 | deleterious | D | 0.525477424 | None | None | N |
| F/T | 0.9788 | likely_pathogenic | 0.978 | pathogenic | -2.759 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| F/V | 0.5005 | ambiguous | 0.5806 | pathogenic | -1.139 | Destabilizing | 0.994 | D | 0.721 | prob.delet. | N | 0.390813854 | None | None | N |
| F/W | 0.8597 | likely_pathogenic | 0.8502 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| F/Y | 0.4843 | ambiguous | 0.4943 | ambiguous | -0.615 | Destabilizing | 0.543 | D | 0.282 | neutral | N | 0.499061614 | 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.