Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14705 | 44338;44339;44340 | chr2:178630845;178630844;178630843 | chr2:179495572;179495571;179495570 |
| N2AB | 13064 | 39415;39416;39417 | chr2:178630845;178630844;178630843 | chr2:179495572;179495571;179495570 |
| N2A | 12137 | 36634;36635;36636 | chr2:178630845;178630844;178630843 | chr2:179495572;179495571;179495570 |
| N2B | 5640 | 17143;17144;17145 | chr2:178630845;178630844;178630843 | chr2:179495572;179495571;179495570 |
| Novex-1 | 5765 | 17518;17519;17520 | chr2:178630845;178630844;178630843 | chr2:179495572;179495571;179495570 |
| Novex-2 | 5832 | 17719;17720;17721 | chr2:178630845;178630844;178630843 | chr2:179495572;179495571;179495570 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | None | None | 0.981 | N | 0.824 | 0.244 | 0.265010934533 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/S | None | None | 0.947 | N | 0.553 | 0.204 | 0.149567049428 | gnomAD-4.0.0 | 6.84425E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99709E-07 | 0 | 0 |
| A/T | rs751017081  |
-1.1 | 0.996 | N | 0.677 | 0.282 | None | gnomAD-2.1.1 | 1.78E-05 | None | None | None | None | N | None | 1.24008E-04 | 5.66E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs751017081 |
-1.1 | 0.996 | N | 0.677 | 0.282 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 1.20639E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs751017081 |
-1.1 | 0.996 | N | 0.677 | 0.282 | None | gnomAD-4.0.0 | 7.43877E-06 | None | None | None | None | N | None | 1.06832E-04 | 3.33556E-05 | None | 0 | 2.23155E-05 | None | 0 | 0 | 8.47836E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5846 | likely_pathogenic | 0.711 | pathogenic | -0.58 | Destabilizing | 0.999 | D | 0.657 | prob.neutral | None | None | None | None | N |
| A/D | 0.9164 | likely_pathogenic | 0.9679 | pathogenic | -1.797 | Destabilizing | 0.981 | D | 0.824 | deleterious | N | 0.414421537 | None | None | N |
| A/E | 0.9006 | likely_pathogenic | 0.9541 | pathogenic | -1.742 | Destabilizing | 0.985 | D | 0.758 | deleterious | None | None | None | None | N |
| A/F | 0.8568 | likely_pathogenic | 0.9004 | pathogenic | -1.053 | Destabilizing | 0.995 | D | 0.802 | deleterious | None | None | None | None | N |
| A/G | 0.1955 | likely_benign | 0.219 | benign | -1.418 | Destabilizing | 0.009 | N | 0.261 | neutral | N | 0.350497022 | None | None | N |
| A/H | 0.9444 | likely_pathogenic | 0.9701 | pathogenic | -1.68 | Destabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | N |
| A/I | 0.6982 | likely_pathogenic | 0.7818 | pathogenic | -0.333 | Destabilizing | 0.995 | D | 0.755 | deleterious | None | None | None | None | N |
| A/K | 0.9571 | likely_pathogenic | 0.9791 | pathogenic | -1.249 | Destabilizing | 0.985 | D | 0.757 | deleterious | None | None | None | None | N |
| A/L | 0.6816 | likely_pathogenic | 0.7786 | pathogenic | -0.333 | Destabilizing | 0.985 | D | 0.773 | deleterious | None | None | None | None | N |
| A/M | 0.7645 | likely_pathogenic | 0.8415 | pathogenic | -0.166 | Destabilizing | 0.999 | D | 0.705 | prob.delet. | None | None | None | None | N |
| A/N | 0.8645 | likely_pathogenic | 0.9333 | pathogenic | -1.004 | Destabilizing | 0.971 | D | 0.813 | deleterious | None | None | None | None | N |
| A/P | 0.3783 | ambiguous | 0.5116 | ambiguous | -0.551 | Destabilizing | 0.116 | N | 0.425 | neutral | N | 0.437034109 | None | None | N |
| A/Q | 0.8981 | likely_pathogenic | 0.9426 | pathogenic | -1.078 | Destabilizing | 0.995 | D | 0.726 | deleterious | None | None | None | None | N |
| A/R | 0.9087 | likely_pathogenic | 0.9469 | pathogenic | -1.01 | Destabilizing | 0.985 | D | 0.753 | deleterious | None | None | None | None | N |
| A/S | 0.2012 | likely_benign | 0.247 | benign | -1.292 | Destabilizing | 0.947 | D | 0.553 | neutral | N | 0.435842209 | None | None | N |
| A/T | 0.2933 | likely_benign | 0.3934 | ambiguous | -1.147 | Destabilizing | 0.996 | D | 0.677 | prob.neutral | N | 0.430691279 | None | None | N |
| A/V | 0.3447 | ambiguous | 0.4383 | ambiguous | -0.551 | Destabilizing | 0.935 | D | 0.664 | prob.neutral | N | 0.41485134 | None | None | N |
| A/W | 0.9707 | likely_pathogenic | 0.9854 | pathogenic | -1.547 | Destabilizing | 0.999 | D | 0.739 | deleterious | None | None | None | None | N |
| A/Y | 0.9243 | likely_pathogenic | 0.9569 | pathogenic | -1.091 | Destabilizing | 0.999 | D | 0.793 | 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.