Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 137 | 634;635;636 | chr2:178800569;178800568;178800567 | chr2:179665296;179665295;179665294 |
| N2AB | 137 | 634;635;636 | chr2:178800569;178800568;178800567 | chr2:179665296;179665295;179665294 |
| N2A | 137 | 634;635;636 | chr2:178800569;178800568;178800567 | chr2:179665296;179665295;179665294 |
| N2B | 137 | 634;635;636 | chr2:178800569;178800568;178800567 | chr2:179665296;179665295;179665294 |
| Novex-1 | 137 | 634;635;636 | chr2:178800569;178800568;178800567 | chr2:179665296;179665295;179665294 |
| Novex-2 | 137 | 634;635;636 | chr2:178800569;178800568;178800567 | chr2:179665296;179665295;179665294 |
| Novex-3 | 137 | 634;635;636 | chr2:178800569;178800568;178800567 | chr2:179665296;179665295;179665294 |
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/I | None | None | 1.0 | N | 0.828 | 0.648 | 0.594903367923 | gnomAD-4.0.0 | 1.5905E-06 | None | None | None | -1.062(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85647E-06 | 0 | 0 |
| F/L | rs1482023535  |
-0.835 | 1.0 | N | 0.821 | 0.623 | 0.629031148641 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -1.062(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.8E-06 | 0 |
| F/L | rs1482023535 |
-0.835 | 1.0 | N | 0.821 | 0.623 | 0.629031148641 | gnomAD-4.0.0 | 1.5905E-06 | None | None | None | -1.062(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0217E-05 |
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 | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -1.913 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | -0.739(TCAP) | N |
| F/C | 0.9973 | likely_pathogenic | 0.998 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.513953297 | None | -0.789(TCAP) | N |
| F/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -2.825 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | -1.07(TCAP) | N |
| F/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.58 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | -1.125(TCAP) | N |
| F/G | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.37 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | -0.637(TCAP) | N |
| F/H | 0.998 | likely_pathogenic | 0.9983 | pathogenic | -1.498 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | -0.468(TCAP) | N |
| F/I | 0.9621 | likely_pathogenic | 0.9697 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.828 | deleterious | N | 0.499771908 | None | -1.062(TCAP) | N |
| F/K | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.668 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | -1.163(TCAP) | N |
| F/L | 0.9978 | likely_pathogenic | 0.9984 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.489539887 | None | -1.062(TCAP) | N |
| F/M | 0.9895 | likely_pathogenic | 0.9914 | pathogenic | -0.134 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | -0.816(TCAP) | N |
| F/N | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.394 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | -1.457(TCAP) | N |
| F/P | 0.9999 | likely_pathogenic | 1.0 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | -0.953(TCAP) | N |
| F/Q | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.125 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | -1.412(TCAP) | N |
| F/R | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.694 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | -1.277(TCAP) | N |
| F/S | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.796 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | N | 0.513953297 | None | -0.912(TCAP) | N |
| F/T | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -2.425 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | -0.996(TCAP) | N |
| F/V | 0.9765 | likely_pathogenic | 0.9821 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.796 | deleterious | N | 0.499771908 | None | -0.953(TCAP) | N |
| F/W | 0.9021 | likely_pathogenic | 0.9113 | pathogenic | 0.103 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | -1.603(TCAP) | N |
| F/Y | 0.7192 | likely_pathogenic | 0.739 | pathogenic | -0.206 | Destabilizing | 1.0 | D | 0.766 | deleterious | N | 0.512910333 | None | -1.308(TCAP) | 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.